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Genetics

Genetics

Stay up to date on the latest medical knowledge with this Genetics activity. In this online self-assessment activity, you'll read our reference articles and test your knowledge with 557 activities in Genetics for 504.75 total CME hours.


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Featured Article Activities

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Waardenburg Syndrome

Waardenburg syndrome is a group of genetic conditions inherited in an autosomal dominant fashion. During embryogenesis, ...
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Hours: 0.75

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Cancer Breast Screening

In women, breast cancer is number one in incidence and mortality when compared to all cancers. It is the most common non ...
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Hours: 1

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Rickets

Rickets is a condition characterized by a defect in mineralization of the epiphyseal plates. Rickets could be inherited ...
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Rating: 4.00
Hours: 1.25

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Pediatric Hearing Loss

Pediatric hearing loss is a broad category that covers a wide range of pathologies. Early detection and prompt managemen ...
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Hours: 1

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Intellectual Disability

Individuals with an intellectual disability have neurodevelopmental deficits characterized by limitations in intellectua ...
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Hours: 1.5

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Adrenoleukodystrophy

Adrenoleukodystrophy is a peroxisomal disorder resulting from abnormal metabolism of the very-long-chain fatty acids (VL ...
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Hours: 1.25

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Genetics Activities

Title Description Hours Questions
5 Alpha Reductase Deficiency This activity reviews 5-alpha-reductase deficiency, an important cause of ambiguous genitalia in children. Initially, the phenotype of children with 5 ... Read the Article 0.75 5 Activity MD/PA Activity DO
A Review Of Hereditary Colorectal Cancers Colorectal cancer is the fourth leading cause of death in the world. Many cases of colorectal cancer are associated with lifestyle factors such as obe ... Read the Article 1 6 Activity MD/PA Activity DO
Abciximab Abciximab is widely used in interventional cardiology for the treatment of unstable angina and as an adjunct therapy following percutaneous coronary i ... Read the Article 1 11 Activity MD/PA Activity DO
Abetalipoproteinemia Abetalipoproteinemia is a rare autosomal recessive disorder marked by low or absent levels of plasma cholesterol, low-density lipoproteins and very-lo ... Read the Article 1 8 Activity MD/PA Activity DO
Achondroplasia Achondroplasia is the most common skeletal dysplasia found in humans, accounting for 90% of cases of disproportionate short stature. It is caused by a ... Read the Article 1.25 11 Activity MD/PA Activity DO
Acoustic Neuroma Acoustic neuromas are tumors that develop from the sheath of Schwann cells. They tend to occupy the cerebellopontine angle and are usually found adjac ... Read the Article 1.25 18 Activity MD/PA Activity DO
Acquired Angioedema Angioedema is characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. It is primarily known to involve ... Read the Article 0.75 5 Activity MD/PA Activity DO
Acquired Digital Fibrokeratoma Acquired digital fibrokeratoma (ADFK) is a rare, benign, fibrous tumor. It usually occurs in adults as a solitary lesion on fingers and toes. Since AD ... Read the Article 0.75 6 Activity MD/PA Activity DO
Acral Lentiginous Melanoma Acral lentiginous melanoma is a subtype of cutaneous malignant melanoma. It is comprised of malignant melanocytes, which can become invasive with time ... Read the Article 1 7 Activity MD/PA Activity DO
Acrodermatitis Enteropathica Acrodermatitis enteropathica is a rare skin disorder associated with zinc deficiency that is most often seen in infants. Zinc is a very important micr ... Read the Article 1 7 Activity MD/PA Activity DO
Acrokeratoelastoidosis Acrokeratoelastoidosis is a rare, benign, and generally asymptomatic condition that usually begins in childhood and is characterized by flesh-colored ... Read the Article 0.75 4 Activity MD/PA Activity DO
Acrokeratosis Verruciformis of Hopf Acrokeratosis verruciformis is a rare genodermatosis that usually develops in childhood and is characterized by verrucous papules on the dorsum of the ... Read the Article 0.75 6 Activity MD/PA Activity DO
Actinic Prurigo Actinic prurigo, also known as prurigo or hydroa aestivale or Hutchinson summer, is a photodermatosis that is characterized by intensely pruritic papu ... Read the Article 0.75 5 Activity MD/PA Activity DO
Acute Intermittent Porphyria Acute intermittent porphyria is a rare autosomal dominant disease, characterized by a deficiency of hydroxymethylbilane synthase (HMBS). It presents w ... Read the Article 1 8 Activity MD/PA Activity DO
Acute Myocardial Infarction Acute myocardial infarctions are one of the leading causes of death in the developed world, with prevalence approaching three million people worldwide ... Read the Article 1.75 25 Activity MD/PA Activity DO
Acute Retinal Necrosis Acute retinal necrosis is characterized by peripheral necrotizing retinitis usually due to infection with varicella-zoster virus or herpes simplex vir ... Read the Article 0.75 5 Activity MD/PA Activity DO
Adrenal Hypoplasia Adrenal hypoplasia is a condition in which there is underdevelopment or hypotrophy of the adrenal cortex due to several clinical conditions. It falls ... Read the Article 0.75 5 Activity MD/PA Activity DO
Adrenoleukodystrophy Adrenoleukodystrophy is a peroxisomal disorder resulting from abnormal metabolism of the very-long-chain fatty acids (VLCFA). It is classified into di ... Read the Article 1.25 13 Activity MD/PA Activity DO
Adult T Cell Leukemia Adult T- cell leukemia (ATL) is a rare and aggressive peripheral T-cell neoplasm associated with human T-cell leukemia virus type -1 (HTLV-1) infectio ... Read the Article 1 8 Activity MD/PA Activity DO
Aflatoxin Toxicity Aflatoxins are metabolites produced by toxigenic strains of molds, mainly Aspergillus flavus and A. parasiticus which grow in soil, hay, decaying vege ... Read the Article 0.75 5 Activity MD/PA Activity DO
Agammaglobulinemia Agammaglobulinemia or hypogammaglobulinemia is a rare inherited immunodeficiency disorder, characterized by low or absent B cells with absent immunogl ... Read the Article 1 8 Activity MD/PA Activity DO
Aggression In Hypothalamic Hamartoma Psychiatric symptoms are a common comorbid feature of hypothalamic hamartoma with epilepsy. They are most disabling and are a significant challenge fo ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ala Dehydratase Deficiency Porphyria ALA dehydratase porphyria is an extremely rare type of acute porphyria that follows a chronic course punctuated by acute attacks. To avoid multiple re ... Read the Article 0.75 6 Activity MD/PA Activity DO
Alagille Syndrome Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder with a wide variety of clinical manifestations. It is also known as arteriohepat ... Read the Article 0.75 6 Activity MD/PA Activity DO
Albinism Albinism is a group of heritable conditions associated with decreased or absent melanin in ectoderm-derived tissues (most notably the skin, hair, and ... Read the Article 1 4 Activity MD/PA Activity DO
Albright Hereditary Osteodystrophy Albright hereditary osteodystrophy (AHO) is a hereditary condition due to inactivating GNAS1 gene mutation. AHO is characterized by a round face, shor ... Read the Article 0.75 5 Activity MD/PA Activity DO
Alcoholic Neuropathy Alcoholic neuropathy is one of the most common adverse effects of chronic alcohol consumption. There is damage to the nerves due to the direct toxic e ... Read the Article 0.75 5 Activity MD/PA Activity DO
Alexander Disease Alexander disease is a relatively rare leukodystrophy that generally presents in the infantile period, although other variants are occasionally seen. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Alkaptonuria Alkaptonuria is a rare genetic inborn error of protein metabolism. It is the result of the deficiency of an enzyme (homogentisate 1,2 dioxygenase - HG ... Read the Article 1 10 Activity MD/PA Activity DO
Alpha 1 Antitrypsin Deficiency Alpha-1 antitrypsin (AAT) deficiency is a clinically under-recognized genetic disorder that causes the defective production of alpha-1 antitrypsin pro ... Read the Article 1 7 Activity MD/PA Activity DO
Alpha 1 Antitrypsin Mutation Alpha-1 antitrypsin is a protease inhibitor produced primarily in the liver. It inhibits the neutrophil elastase activity in the lung and hence can pr ... Read the Article 0.75 5 Activity MD/PA Activity DO
Alpha Thalassemia Hemoglobin H disease (alpha-thalassemia) can be found in patients that live in areas with a high incidence of malaria. Symptoms at presentation, such ... Read the Article 1 7 Activity MD/PA Activity DO
Alport Syndrome Alport syndrome is a genetic condition characterized by kidney disease, loss of hearing, and eye abnormalities. It takes place due to an abnormality o ... Read the Article 0.75 6 Activity MD/PA Activity DO
Ambiguous Genitalia And Disorders of Sexual Differentiation Infants born with a disorder of sex development (DSD) prompt multiple medical, surgical, ethical, psychosocial, and physical issues for patients and t ... Read the Article 1 7 Activity MD/PA Activity DO
Amiloride Amiloride is a medication used in the management and treatment of hypertension and heart failure. It is in the diuretic class of drugs. This activity ... Read the Article 1 8 Activity MD/PA Activity DO
Amniocentesis Amniocentesis is the aspiration of amniotic fluid from the amniotic cavity and is the most common invasive fetal testing procedure. It is usually perf ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ampullary Cancer Ampullary cancer arises from ampulla of Vater terminal to the confluence of the distal common bile duct (CBD) and the pancreatic duct. It is important ... Read the Article 0.75 5 Activity MD/PA Activity DO
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis (ALS), also known as “Lou Gehrig’s disease,” is a neurodegenerative disease of the motor neurons. This activity reviews ... Read the Article 1.5 19 Activity MD/PA Activity DO
Anaplastic Large Cell Lymphoma Anaplastic lymphoma kinase positive (ALK+) anaplastic large cell lymphoma (ALCL), is a T-cell lymphoma characterized by large, pleomorphic lymphoid ce ... Read the Article 0.75 5 Activity MD/PA Activity DO
Androgen Insensitivity Syndrome Androgen insensitivity syndrome (AIS) is a common etiology of sexual developmental disorders and results in varying phenotypes. These disorders of and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Anesthetic Gases Anesthetic gases (nitrous oxide, halothane, isoflurane, desflurane, sevoflurane), also known as inhaled anesthetics, are administered as primary thera ... Read the Article 0.75 4 Activity MD/PA Activity DO
Angelman Syndrome Angelman syndrome is a rare disorder caused by loss of function of the maternal UBE3A. It presents in childhood with psychomotor delay, absent speech, ... Read the Article 0.75 6 Activity MD/PA Activity DO
Angiodysplasia Angiodysplasia is an abnormal, tortuous, dilated small blood vessel in the mucosal and submucosal layers of the GI tract. It is the most common vascul ... Read the Article 1 10 Activity MD/PA Activity DO
Angioid Streaks Angioid streaks occur due to breaks in a degenerated and mineralized Bruch's membrane, that typically radiate outward from the optic disc. Angioid st ... Read the Article 0.75 5 Activity MD/PA Activity DO
Angiokeratoma Circumscriptum Angiokeratomas are a group of capillary malformations characterized by vascular ectasias of the papillary dermis associated with hyperkeratosis, papil ... Read the Article 0.75 6 Activity MD/PA Activity DO
Angioneurotic Edema Angioneurotic edema is a relatively common presentation in the emergency department. It presents as unpredictable frequent edematous episodes of cutan ... Read the Article 0.75 5 Activity MD/PA Activity DO
Angiosarcoma Angiosarcoma is a tumor of endothelial cell-origin that comprises 1% of all soft tissue sarcomas. It is an aggressive malignancy that carries a poor p ... Read the Article 0.75 5 Activity MD/PA Activity DO
Anhidrosis Anhidrosis is the inability to sweat. It is important to recognize anhidrosis as it can be potentially life-threatening due to heat-related illnesses. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Aniridia Aniridia is defined as a partial or complete absence of the iris. It may be associated with various systemic disorders and multiple ocular morbidities ... Read the Article 1 6 Activity MD/PA Activity DO
Anorexia and Cachexia Cachexia is a significant loss of muscle and adipose tissue. It occurs in patients with advanced cancer, chronic obstructive pulmonary disease, chroni ... Read the Article 1 7 Activity MD/PA Activity DO
Antiemetic Serotonin-5-HT3 Receptor Blockers Select serotonin receptor (5-HT3) antagonists block serotonin both peripherally, on gastrointestinal (GI) vagal nerve terminals, and centrally in the ... Read the Article 0.75 5 Activity MD/PA Activity DO
Aortic Insufficiency A normal aortic valve is comprised of three semilunar cusps that attach to the aortic wall. Aortic regurgitation (AR), also known as aortic insufficie ... Read the Article 1 10 Activity MD/PA Activity DO
Aortic Regurgitation Aortic regurgitation is the inadequate closure of the aortic valve during diastole that results in reverse blood flow through the aortic valve. This c ... Read the Article 1.5 20 Activity MD/PA Activity DO
Apert Syndrome Apert syndrome is an autosomal dominant inherited craniosynostosis syndrome. Males and females are equally affected. The incidence of the disease sign ... Read the Article 0.75 5 Activity MD/PA Activity DO
Aplasia Cutis Congenita Aplasia cutis congenita (ACC) is a rare congenital skin defect characterized by a focal or extensive absence of the epidermis, dermis, and occasionall ... Read the Article 0.75 5 Activity MD/PA Activity DO
Aplastic Anemia Aplastic anemia refers to the syndrome of chronic primary hematopoietic failure from injury leading to diminished or absent hematopoietic precursors i ... Read the Article 1 11 Activity MD/PA Activity DO
Arginase Deficiency Argininemia is an autosomal recessive disorder causing hyperammonemia secondary to arginine accumulation. It is a disorder first noticed in children w ... Read the Article 0.75 6 Activity MD/PA Activity DO
Arnold Chiari Malformation Arnold-Chiari or Chiari malformations describe a group of deformities of the posterior fossa and hindbrain, which includes the cerebellum, pons, and m ... Read the Article 1 8 Activity MD/PA Activity DO
Arrhythmogenic Right Ventricular Cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (ARVC), a condition also known as arrhythmogenic right ventricular dysplasia (ARVD), is a genetic diso ... Read the Article 0.75 6 Activity MD/PA Activity DO
Arteriovenous Fistula Arteriovenous fistulas are abnormal connections between arteries and veins. AVFs can be surgically created, can occur as a result of a congenital or g ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ataxia Ataxia is a neurological sign that manifests in a lack of coordination in the movement of different muscles in the body. It is a clinical finding and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ataxia Telangiectasia Ataxia telangiectasia (Louis-Bar Syndrome) is a rare autosomal recessive condition characterized by cutaneous telangiectasias, cerebellar atrophy with ... Read the Article 1.25 13 Activity MD/PA Activity DO
Atopy Atopy is a predisposition to an immune response against diverse antigens and allergens leading to CD4+ Th2 differentiation and overproduction of immun ... Read the Article 0.75 5 Activity MD/PA Activity DO
Atrial Septal Defect Atrial septal defect (ASD) is one of the most common types of congenital heart defects, occurring in about 25% of children. An atrial septal defect oc ... Read the Article 1.5 18 Activity MD/PA Activity DO
Atrioventricular Septal Defect The atrioventricular septal defect is a congenital cardiac malformation that is characterized by a variable degree of the atrial and ventricular septa ... Read the Article 1 11 Activity MD/PA Activity DO
Atypical Mole A dysplastic nevus is a transition between benign moles and melanoma and is characterized by junctional melanocytic skin lesions showing dysplastic or ... Read the Article 0.75 6 Activity MD/PA Activity DO
Autoimmune Myopathies Idiopathic inflammatory myositis (IIM) is classified into four subtypes based on clinical and histopathological features. Polymyositis (PM) and dermat ... Read the Article 1 9 Activity MD/PA Activity DO
Axenfeld-Rieger Syndrome Axenfeld-Rieger syndrome (ARS) was previously known as Axenfeld anomaly; the latter term was used to describe one of three subvariants of this spectru ... Read the Article 0.75 5 Activity MD/PA Activity DO
Bartter Syndrome Bartter syndrome is an autosomal recessive disorder of salt reabsorption resulting in extracellular fluid volume depletion with low/normal blood press ... Read the Article 0.75 5 Activity MD/PA Activity DO
Basal Cell Cancer Basal cell carcinoma a common cutaneous malignancy that occurs mostly on sun-damaged skin of the head, neck, and trunk. Basal cell carcinoma can be di ... Read the Article 1.25 14 Activity MD/PA Activity DO
Becker Muscular Dystrophy Becker muscular dystrophy (BMD) is an X-linked recessive disorder due to mutation in the Dystrophin gene that results in progressive muscle degenerati ... Read the Article 0.75 5 Activity MD/PA Activity DO
Beckwith Wiedemann Syndrome Beckwith-Wiedemann Syndrome is the most common overgrowth syndrome. It is a genetic imprinting disorder, and it can present as a wide and varied clini ... Read the Article 1 6 Activity MD/PA Activity DO
Benign Essential Blepharospasm Benign essential blepharospasm is a focal cranial dystonia, characterized by involuntary contractions of orbicularis oculi muscle contractions, result ... Read the Article 1 5 Activity MD/PA Activity DO
Benign Mesothelioma Mesotheliomas represent a proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal cove ... Read the Article 0.75 4 Activity MD/PA Activity DO
Best Disease Best disease (Best vitelliform macular dystrophy, BVMD) is a rare autosomal dominant disorder due to the mutation of BEST1 (or VMD2, TU15B) gene with ... Read the Article 1 6 Activity MD/PA Activity DO
Bicornuate Uterus A bicornuate uterus is a uterine malformation that is produced due to impairment in the fusion of Mullerian ducts. The bicornuate uterus is a rare ano ... Read the Article 1 6 Activity MD/PA Activity DO
Biotin Deficiency Biotin is a B-complex vitamin that serves as an essential coenzyme for five carboxylases: pyruvate carboxylase, 3-methylcrotonyl-CoA carboxylase, prop ... Read the Article 0.75 6 Activity MD/PA Activity DO
Biotinidase Deficiency Biotin acts as a coenzyme for four carboxylation enzymes in the body: 3-methylcrontonyl-CoA carboxylase (MCC), pyruvate carboxylase (PC), acetyl-CoA c ... Read the Article 0.75 5 Activity MD/PA Activity DO
Birdshot Retinopathy Birdshot chorioretinopathy (BCR) is an unusual form of chronic, bilateral, posterior uveitis with a distinguishing clinical phenotype, and a strong as ... Read the Article 0.75 5 Activity MD/PA Activity DO
Birt Hogg Dube Syndrome Birt Hogg Dube syndrome is an autosomal dominant genodermatosis, usually manifesting in the third decade of life with multiple fibrofolliculomas, tric ... Read the Article 0.75 6 Activity MD/PA Activity DO
Bloom Syndrome Bloom syndrome, also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a rare autosomal recessive inherited disorder char ... Read the Article 0.75 5 Activity MD/PA Activity DO
Blue Nevus Blue nevi are melanotic dermal lesions that commonly presents as a blue nodule on the scalp, extremities, sacrococcygeal region, or buttocks. Its char ... Read the Article 1 7 Activity MD/PA Activity DO
Bone Marrow Failure Bone marrow failure (BMF) refers to the decreased production of one or more major hematopoietic lineages which leads to diminished or absent hematopoi ... Read the Article 1 8 Activity MD/PA Activity DO
Brachial Plexitis Brachial plexitis is a condition characterized by acute onset of shoulder pain followed by weakness and/or sensory loss of the shoulder and/or upper e ... Read the Article 1 9 Activity MD/PA Activity DO
BRCA 1 and 2 Breast cancer genes BRCA1 and BRCA2 are tumor suppressor genes whose mutations significantly increase the likelihood of developing particular types of ... Read the Article 1 8 Activity MD/PA Activity DO
Breast Cancer Breast cancer is the most common cancer diagnosed in women, accounting for more than 1 in 10 new cancer diagnoses each year. It is the second most com ... Read the Article 1.25 15 Activity MD/PA Activity DO
Breast Magnetic Resonance Imaging Over the past several years, magnetic resonance imaging of the breast has become an increasingly important modality for screening for and diagnosing b ... Read the Article 0.75 6 Activity MD/PA Activity DO
Breast Milk Jaundice Breast milk jaundice is a type of jaundice that occurs in neonates due to breastfeeding. It happens within the first week of life due to the abnormal ... Read the Article 1 11 Activity MD/PA Activity DO
Brugada Syndrome Brugada syndrome is a rare but potentially life-threatening inherited disease that predisposes patients to fatal cardiac arrhythmias. The syndrome is ... Read the Article 0.75 4 Activity MD/PA Activity DO
Burkitt Lymphoma Burkitt lymphoma (BL) is an aggressive non-Hodgkin B-cell lymphoma. The disease is associated with Epstein Barr virus (EBV), human immunodeficiency vi ... Read the Article 1 10 Activity MD/PA Activity DO
C 17 Hydroxylase Deficiency Congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by a deficiency of one of the enzymes required for the ste ... Read the Article 0.75 6 Activity MD/PA Activity DO
Cafe Au Lait Macules Cafe-au-lait macules (CALMs) are common pigmented lesions found in the general population. They can be described as well-circumscribed, pigmented macu ... Read the Article 1 8 Activity MD/PA Activity DO
Calcifying Epithelioma of Malherbe A pilomatrixoma, or calcifying epithelioma of Malherbe, is a benign tumor of the hair follicle matrix that exclusively occurs in heat-bearing areas. T ... Read the Article 1 8 Activity MD/PA Activity DO
Canavan Disease Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, is a rare, progressive, and fatal neurological hereditary disorder that begins in i ... Read the Article 1 8 Activity MD/PA Activity DO
Cancer Breast Screening In women, breast cancer is number one in incidence and mortality when compared to all cancers. It is the most common non-skin cancer and second deadli ... Read the Article 1 11 Activity MD/PA Activity DO
Cardiac Manifestations Of Coronavirus Coronaviruses are a large family of single positive-stranded, enveloped RNA viruses that can infect many animal species and humans. Human coronaviruse ... Read the Article 1 5 Activity MD/PA Activity DO
Cardiac Rhabdomyoma Cardiac rhabdomyoma is a rare tumor. It arises from the striated muscles. It is a type of hamartoma seen in the pediatric age group. Although mostly a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Carney Complex Carney complex (CNC) is a rare genetic disorder associated with one of the multiple endocrine neoplasia (MEN) syndromes. Carney complex affects multip ... Read the Article 0.75 4 Activity MD/PA Activity DO
Carnitine Deficiency Carnitine deficiency is a condition characterized by low carnitine levels in the body. Carnitine deficiency could be primary (due to defect in carniti ... Read the Article 0.75 5 Activity MD/PA Activity DO
Caroli Disease Caroli disease is a rare inherited disorder involving segmental dilatation of large, intrahepatic bile ducts which appear as cysts on imaging and hist ... Read the Article 0.75 5 Activity MD/PA Activity DO
Catheter Management Of Ventricular Septal Defect Traditionally, ventricular septal defects (VSDs) have been closed with an open approach, but since then, a percutaneous transcatheter closure has been ... Read the Article 0.75 4 Activity MD/PA Activity DO
Cavernous Venous Malformation Cerebral cavernous malformations, also known as cavernomas or cavernous hemangiomas, are clusters of abnormal and hyalinized capillaries without inter ... Read the Article 1 7 Activity MD/PA Activity DO
Cavum Septum Pellucidum The septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius, is a thin, triangular double membrane separati ... Read the Article 0.75 5 Activity MD/PA Activity DO
Celiac Disease Celiac disease, also known as gluten-sensitive enteropathy, is an autoimmune disease of the small intestine. Celiac disease is a condition in which th ... Read the Article 1.5 24 Activity MD/PA Activity DO
Central and Peripheral Cyanosis Peripheral cyanosis is the bluish discoloration of the distal extremities (Hands, fingertips, toes), and can sometimes involve circumoral and periorbi ... Read the Article 1 7 Activity MD/PA Activity DO
Cerebellopontine Angle Cancer The cerebellopontine angle (CPA) is an important landmark anatomically and clinically. The most common lesions at the CPA are vestibular schwannoma, m ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cerebral Amyloid Angiopathy Cerebral amyloid angiopathy is a type of cerebrovascular disorder characterized by the accumulation of amyloid beta-peptide within the leptomeninges a ... Read the Article 0.75 6 Activity MD/PA Activity DO
Cerebral Autosomal Dominant Arteriopathy Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease with almost exclusively n ... Read the Article 1 9 Activity MD/PA Activity DO
Cerebral Palsy Cerebral palsy is a group of permanent disorders affecting the development of movement and causing a limitation of activity. Non-progressive disturban ... Read the Article 1 11 Activity MD/PA Activity DO
Charcot Bouchard Aneurysm The rupture of Charcot Bouchard aneurysms causes intracerebral bleeds in the deep structures of the brain especially in patients predisposed to this c ... Read the Article 1 6 Activity MD/PA Activity DO
Charcot Marie Tooth Charcot-Marie-Tooth disease (CMT) is the commonest inherited neuromuscular disorder. It affects the peripheral nerves and leads to progressive weaknes ... Read the Article 1.5 18 Activity MD/PA Activity DO
CHARGE Syndrome CHARGE syndrome is an inherited disorder caused by a mutation in the DNA-binding protein-7 CHD7 gene. CHARGE syndrome is an acronym for coloboma, hear ... Read the Article 0.75 6 Activity MD/PA Activity DO
Chediak Higashi Syndrome Chediak Higashi syndrome (CHS) is an autosomal recessive disorder that is characterized by easy bruising, oculocutaneous albinism and recurrent pyogen ... Read the Article 0.75 5 Activity MD/PA Activity DO
Chemotherapy Acral Erythema Acral erythema is also known as palmar-plantar erythrodysesthesia (PPE), palmoplantar erythrodysesthesia, hand-foot syndrome (HFS), or Burgdorf reacti ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cherry Red Spot A cherry-red spot refers to a red-tinted region at the center of macula surrounded by retinal opacification. Cherry-red spots may be present in a vari ... Read the Article 0.75 5 Activity MD/PA Activity DO
Chest Wall Deformities Chest wall deformities are a set of congenital diseases; these can manifest as; an isolated feature, with other congenital anomalies, or as part of a ... Read the Article 1 9 Activity MD/PA Activity DO
Child Syndrome Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome, also known as CHILD syndrome, is a rare condition that affects dif ... Read the Article 0.75 6 Activity MD/PA Activity DO
Childhood Brain Tumors Pediatric brain tumors are the most common type of solid childhood cancer and only second to leukemia as a cause of pediatric malignancies. They are c ... Read the Article 1 9 Activity MD/PA Activity DO
Chorea According to the Committee on Classification of the World Federation of Neurology, chorea is defined as "a state of excessive, spontaneous movements, ... Read the Article 0.75 4 Activity MD/PA Activity DO
Chorionic Villus Sampling Chorionic villus sampling is a prenatal diagnostic test performed between 10 and 13 weeks gestation. This activity reviews the indications, risks, and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Chromosome Instability Syndromes Chromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in r ... Read the Article 0.75 5 Activity MD/PA Activity DO
Chronic Granulomatous Disease Chronic granulomatous diseases (CGD) are a group of recurrent life-threatening infections due to a hereditary defect in forming reactive oxygen specie ... Read the Article 1.25 16 Activity MD/PA Activity DO
Chronic Liver Disease Chronic liver disease is a progressive deterioration of liver functions. Liver functions include the production of clotting factors and other proteins ... Read the Article 0.75 4 Activity MD/PA Activity DO
Chronic Lymphocytic Leukemia Chronic lymphocytic leukemia is a chronic lymphoproliferative disorder characterized by monoclonal B cell proliferation. It is the most common adult l ... Read the Article 1 5 Activity MD/PA Activity DO
Chronic Myelogenous Leukemia Chronic myeloid leukemia (CML), BCR-ABL1-positive, is classified as a myeloproliferative neoplasm predominantly composed of proliferating granulocytes ... Read the Article 1 9 Activity MD/PA Activity DO
Chronic Testicular Pain Chronic orchialgia is defined as 3 months of intermittent or constant testicular pain that is significantly bothersome to the patient. It is the cause ... Read the Article 1 6 Activity MD/PA Activity DO
Ciliary Dysfunction The majority of newborns with primary ciliary dyskinesia (PCD), formerly known as immotile cilia syndrome, develop neonatal respiratory distress with ... Read the Article 1 8 Activity MD/PA Activity DO
Cleft Hand Cleft hand, otherwise referred to as ectrodactyly or colloquially as "split hand," is defined as a central longitudinal deficiency expressed as suppre ... Read the Article 0.75 5 Activity MD/PA Activity DO
Clinodactyly Clinodactyly is defined as a congenital curvature of a digit distal to the metacarpal phalangeal joint in the coronal plane. Curvatures with an angula ... Read the Article 0.75 6 Activity MD/PA Activity DO
Clostridium Difficile Clostridium difficile is a gram-positive bacterium that is the cause most implicated in antibiotic-associated diarrhea. The emergence of a newer hyper ... Read the Article 1.25 15 Activity MD/PA Activity DO
Cockayne Syndrome Cockayne syndrome, first described in 1936 by Dr. Cockayne, is a rare genetic disorder, mainly characterized by growth disorders, intellectual deficit ... Read the Article 0.75 2 Activity MD/PA Activity DO
Colchicine Colchicine has FDA approval for gout prophylaxis and treatment of acute gouty flares. It also has approval for the treatment of familial Mediterranean ... Read the Article 0.75 5 Activity MD/PA Activity DO
Colon Resection Colon resection is the removal of either a portion of or the entire colon. This activity reviews the indications and contraindications for colon resec ... Read the Article 1 11 Activity MD/PA Activity DO
Complement Deficiency The immune system is the body’s defense mechanism against infections and is made of two pathways - the innate and adaptive pathway. The innate pathway ... Read the Article 1 8 Activity MD/PA Activity DO
Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the production of glu ... Read the Article 1 10 Activity MD/PA Activity DO
Congenital Diaphragmatic Hernia Congenital diaphragmatic hernia is a condition resulting from the herniation of abdominal contents into the thoracic cavity resulting in lung hypoplas ... Read the Article 1 11 Activity MD/PA Activity DO
Congenital Hereditary Endothelial Dystrophy Congenital hereditary endothelial dystrophy (CHED) presents as bilateral corneal opacification present at birth or in the immediate newborn period and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Congenital Muscular Dystrophy Congenital muscular dystrophy is one of the variants of muscle weakness disorders presenting early in life during infancy and soon after birth. The di ... Read the Article 1 7 Activity MD/PA Activity DO
Congenital Myotonic Dystrophy Congenital myotonic dystrophy (CMD) is an autosomal dominant neuromuscular disorder with multisystem involvement. It is a subtype of myotonic dystroph ... Read the Article 1 10 Activity MD/PA Activity DO
Congenital Nevus Congenital melanocytic nevi are pigmented lesions that are usually present a birth. They are generally benign, but a small percentage (especially the ... Read the Article 1 10 Activity MD/PA Activity DO
Conjoined Twins Conjoined twins refers to twins that are physically fused in utero and consequently at birth. This type of pregnancy is a complicated phenomenon that ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cooley Anemia Thalassemia major or Cooley anemia is one of the common monogenic hereditary hemoglobin disorders. It results from the absence of a beta-globin chain ... Read the Article 1 6 Activity MD/PA Activity DO
Copper Toxicity Copper metabolism plays an important role in physiologic homeostasis. Copper toxicity, however, induces several pathologic processes that are detrimen ... Read the Article 0.75 5 Activity MD/PA Activity DO
Corneal Dystrophy Corneal dystrophies are a collection of genetic diseases that affect corneal transparency and refraction due to increased deposition of abnormal mater ... Read the Article 1 5 Activity MD/PA Activity DO
Cornelia de Lange Syndrome Cornelia de Lange syndrome (CdLS) was initially described in 1933. CdLS is a genetic disorder that affects many organs, leading to various clinical pr ... Read the Article 0.75 6 Activity MD/PA Activity DO
Coronary Cameral Fistula Coronary cameral fistula is an abnormal communication existing between a coronary artery and any cardiac chamber. It appears in less than 1% of the po ... Read the Article 0.75 6 Activity MD/PA Activity DO
Cowden Disease Cowden disease, also known as Cowden syndrome or multiple hamartoma syndrome, is an uncommon autosomal dominant genodermatosis and is a member of the ... Read the Article 1 10 Activity MD/PA Activity DO
Craniopharyngioma Craniopharyngioma is a rare, virtually benign tumor of the central nervous system (CNS). It is a partly cystic embryonic malformation that can occur i ... Read the Article 0.75 6 Activity MD/PA Activity DO
Craniosynostosis Craniosynostosis results from the premature closure of one or more sutures of the skull. Depending on the number of sutures involved, and the range of ... Read the Article 0.75 6 Activity MD/PA Activity DO
Creutzfeldt Jakob Disease Creutzfeldt-Jakob disease (CJD) is a rare, fatal degenerative brain disorder caused by prion proteins. It belongs to a group of transmissible spongifo ... Read the Article 1 9 Activity MD/PA Activity DO
Cri Du Chat Syndrome Cri du chat syndrome is a genetic disorder caused by a deletion of the short arm of chromosome 5. The name of the syndrome means the cry of the cat an ... Read the Article 0.75 5 Activity MD/PA Activity DO
Crigler Najjar Syndrome Crigler-Najjar syndrome is an autosomal recessive inherited disorder that leads to congenital non-hemolytic jaundice. Crigler-Najjar syndrome is cause ... Read the Article 0.75 5 Activity MD/PA Activity DO
Crohn Disease Crohn disease (CD) and ulcerative colitis (UC) are two conditions commonly referred to as inflammatory bowel disease (IBD). They are immunologically m ... Read the Article 2 34 Activity MD/PA Activity DO
Crouzon Syndrome Crouzon syndrome is a genetically inherited syndrome characterized by craniosynostosis (premature fusion of coronal sutures) resulting in the skull an ... Read the Article 0.75 4 Activity MD/PA Activity DO
Cutanea Tarda Porphyria Porphyria cutanea tarda (PCT) is a part of a spectrum of diseases that arise as a result of abnormal enzymes in the biosynthesis of heme. It is caused ... Read the Article 0.75 4 Activity MD/PA Activity DO
Cutaneous Angiofibroma Cutaneous angiofibroma is a term used to define a group of lesions with different clinical presentations but with the same histologic findings. Both ... Read the Article 0.75 6 Activity MD/PA Activity DO
Cutaneous Leiomyomas Piloleiomyomas are a type of cutaneous leiomyoma. Patients with one or more piloleiomyomas should be evaluated for Reed syndrome, also known as Heredi ... Read the Article 0.75 4 Activity MD/PA Activity DO
Cutis Laxa Cutis laxa (CL) is a group of rare diseases of connective tissue characterized by redundant skin with loss of elasticity and premature aging. Heritabl ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cyclic Neutropenia Cyclic neutropenia is a very rare hematological condition characterized by regular fluctuations in blood neutrophil counts, leading to periodic neutro ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cystic Fibrosis Until relatively modern times, cystic fibrosis was poorly understood. In 1949, Lowe et al. postulated that cystic fibrosis must be caused by a geneti ... Read the Article 1.5 20 Activity MD/PA Activity DO
Cystic Fibrosis And Liver Disease Cystic fibrosis (CF) is an autosomal recessive (AR) disorder that commonly affects the White population with an annual incidence of approximately 1 in ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cystic Fibrosis Related Diabetes Cystic fibrosis-related diabetes is an extrapulmonary complication of cystic fibrosis. Cystic fibrosis-related diabetes is the result of abnormal gluc ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cystic Hygroma Cystic hygromas are the most common subtype of lymphangiomas, presenting at birth and in early infancy. Enlargement of cystic hygromas is common, and ... Read the Article 1 7 Activity MD/PA Activity DO
Dandy Walker Malformation Dandy-Walker malformation (DWM) or syndrome is a posterior fossa anomaly characterized by agenesis or hypoplasia of the vermis and cystic enlargement ... Read the Article 0.75 5 Activity MD/PA Activity DO
Danon Disease Danon disease is a rare X-linked dominant genetic disorder that manifests with the clinical triad of cardiomyopathy, skeletal myopathy, and intellectu ... Read the Article 0.75 6 Activity MD/PA Activity DO
Delayed Puberty Delayed puberty not infrequently occurs in the pediatric population and a common reason for referral to a pediatric endocrinologist. While it is usual ... Read the Article 0.75 4 Activity MD/PA Activity DO
Dentatorubral Pallidoluysian Atrophy Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive, autosomal dominant disorder with symptoms and severity that vary with the age of onset. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Dermal Melanocytosis This activity outlines the evaluation & management of congenital dermal melanocytosis (Mongolian spot). It explains the role of the interprofessional ... Read the Article 0.75 6 Activity MD/PA Activity DO
Dermatosis Papulosa Nigra Dermatosis papulosa nigra (DPN) is a benign epidermal growth that presents as hyperpigmented or skin-colored papules that develop on the face and neck ... Read the Article 0.75 5 Activity MD/PA Activity DO
Development Milestones Developmental milestones are markers of a child’s development from infancy on into childhood. They are used to help determine if a child is undergoing ... Read the Article 1 11 Activity MD/PA Activity DO
Developmental Delay Delay in development occurs when the child fails to attain developmental milestones as compared to peers from the same population. It is caused by imp ... Read the Article 1.25 12 Activity MD/PA Activity DO
Dextrocardia Dextrocardia is a congenital condition in which the heart is located in the right side of the thorax. This activity reviews the evaluation and managem ... Read the Article 0.75 5 Activity MD/PA Activity DO
Diamond Blackfan Anemia Diamond Blackfan anemia (DBA) is a congenital type of anemia with pure red cell aplasia causing congenital bone abnormalities and most commonly presen ... Read the Article 0.75 5 Activity MD/PA Activity DO
Diffuse Intrinsic Pontine Glioma Diffuse intrinsic pontine glioma (DIPG) is an aggressive type of childhood cancer that forms in the brainstem. They are very rare and almost always oc ... Read the Article 0.75 5 Activity MD/PA Activity DO
DiGeorge Syndrome DiGeorge syndrome (DGS) is a congenital disorder with a broad phenotypic presentation, which results predominantly from the microdeletion of chromosom ... Read the Article 1 7 Activity MD/PA Activity DO
Dornase Alfa Dornase alfa is a medication used in the management and treatment of cystic fibrosis. It is in the category B class of drugs. This activity outlines t ... Read the Article 0.75 5 Activity MD/PA Activity DO
Dowling Degos Disease Dowling-Degos disease is a rare autosomal dominant disorder characterized by acquired reticular hyperpigmentation in flexural sites. Hyperpigmentation ... Read the Article 0.75 6 Activity MD/PA Activity DO
Down Syndrome Down syndrome (trisomy 21) is a genetic disorder caused by the presence of all or a portion of a third chromosome 21. Patients typically present with ... Read the Article 1 9 Activity MD/PA Activity DO
Drug Metabolism Most drugs undergo chemical alteration by various bodily systems as a way to create compounds that are more easily excreted from the body. These chemi ... Read the Article 1 8 Activity MD/PA Activity DO
Dubin Johnson Syndrome In 1954, Dubin and Johnson described a new clinicopathological entity consisting of chronic idiopathic jaundice with unidentified pigment in the liver ... Read the Article 1 7 Activity MD/PA Activity DO
Duchenne Muscular Dystrophy Unfortunately, Duchenne muscular dystrophy (DMD) is not only one of the most severe forms of inherited muscular dystrophies but also the most common h ... Read the Article 1.5 21 Activity MD/PA Activity DO
Dwarfism Dwarfism is the medical terminology for short-stature. It is defined as height-vertex below two standard deviations (-2SD) or in the third percentile ... Read the Article 0.75 5 Activity MD/PA Activity DO
Dyskeratosis Congenita Dyskeratosis congenita, also known as Zinsser-Engman-Cole syndrome, is an uncommon genodermatosis classically associated with the triad of oral leukop ... Read the Article 1 7 Activity MD/PA Activity DO
Dystonia Dystonia is defined by involuntary maintained contraction of agonist and antagonist muscles yielding abnormal posturing, twisting and repetitive movem ... Read the Article 1 6 Activity MD/PA Activity DO
Dystonic Reactions An acute dystonic reaction is characterized by involuntary contractions of muscles of the extremities, face, neck, abdomen, pelvis, or larynx in eithe ... Read the Article 1 10 Activity MD/PA Activity DO
Dystrophinopathies This activity covers a group of X-linked muscle disorders, with their most recognized pathology being Duchenne muscular dystrophy (DMD), followed by B ... Read the Article 0.75 6 Activity MD/PA Activity DO
Ectodermal Dysplasia Ectodermal dysplasias form a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures, one of wh ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ehlers Danlos Syndrome Ehlers-Danlos syndrome (EDS) is a genetic disorder affecting collagen formation and function. It affects virtually every organ system, which can resul ... Read the Article 1 9 Activity MD/PA Activity DO
Electrical Status Epilepticus In Sleep Electrical status epilepticus in sleep (ESES), a childhood-onset epileptic encephalopathy, is characterized by epilepsy, cognitive regression, and mar ... Read the Article 0.75 5 Activity MD/PA Activity DO
Endocardial Fibroelastosis Endocardial fibroelastosis (EFE) is primarily a disease of infants and children, but can rarely present in adulthood as well. In 1943, Endocardial fib ... Read the Article 0.75 3 Activity MD/PA Activity DO
Endometrial Cancer Uterine endometrial cancer is the most prevalent gynecologic malignancy in American women and a major cause of both morbidity and mortality. Over 60,0 ... Read the Article 1.75 19 Activity MD/PA Activity DO
Eosinophilic Granuloma Eosinophilic granuloma (EG) is a rare and mildest form of Langerhans cell histiocytosis. The presentation of EG can be monostotic, polyostotic, or can ... Read the Article 0.75 5 Activity MD/PA Activity DO
Epidermal Nevus Syndromes Epidermal nevus syndrome is an umbrella term used to describe epidermal nevi in association with syndromic features. The first well-described syndrome ... Read the Article 0.75 5 Activity MD/PA Activity DO
Epidermodysplasia Verruciformis Epidermodysplasia verruciformis (EV) is a genetic dermatologic condition in which patients show a decreased immunologic ability to defend against and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Epidermolysis Bullosa Acquisita Epidermolysis bullosa acquisita (EBA) is a rare chronic autoimmune blistering disease of the skin and mucous membranes. EBA is caused by autoantibodie ... Read the Article 0.75 4 Activity MD/PA Activity DO
Epidermolytic Hyperkeratosis Epidermolytic hyperkeratosis (bullous ichthyosiform erythroderma) is a rare autosomal dominant disorder of cornification caused by mutations in kerati ... Read the Article 0.75 5 Activity MD/PA Activity DO
Eptifibatide Eptifibatide is a glycoprotein IIb/IIIa class platelet inhibitor drug used to reduce ischemic cardiac events in specific patient populations. This act ... Read the Article 0.75 5 Activity MD/PA Activity DO
Erlotinib Erlotinib is a medication used in the management and treatment of some types of non-small cell lung cancer and advanced pancreatic cancer. It is in th ... Read the Article 0.75 6 Activity MD/PA Activity DO
Erythromelalgia Erythromelalgia is a rarely occurring disease entity characterized by a triad of erythema, warmth, and recurrent burning pain, most notably affecting ... Read the Article 1 9 Activity MD/PA Activity DO
Erythropoietic Protoporphyria Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, p ... Read the Article 0.75 5 Activity MD/PA Activity DO
Esophageal Ulcer An esophageal ulcer is a distinct break in the margin of the esophageal mucosa. This mucosal damage to the esophagus is often caused by gastroesophage ... Read the Article 0.75 6 Activity MD/PA Activity DO
Essential Thrombocytosis Essential thrombocytosis is also known as essential thrombocythemia (ET) and was formerly known as hemorrhagic thrombocythemia and is one of the myelo ... Read the Article 0.75 5 Activity MD/PA Activity DO
External Ear Aural Atresia Aural atresia is the absence of a patent ear canal that may be acquired or congenital. To preserve hearing and allow normal speech and language develo ... Read the Article 1 6 Activity MD/PA Activity DO
Extramammary Paget Disease Extramammary Paget disease (EMPD) is a rare dermatologic condition that frequently presents in areas where apocrine sweat glands are abundant. Most co ... Read the Article 0.75 4 Activity MD/PA Activity DO
Eyelid Coloboma Eyelid coloboma is a rare condition that affects congenitally. It’s a very annoying and disturbing condition for the parents also. While treating the ... Read the Article 0.75 5 Activity MD/PA Activity DO
Fabry Disease Fabry disease is a multi-systemic, X-linked recessive lysosomal storage disease caused by decreased activity of alpha-galactosidase A and results in l ... Read the Article 1 9 Activity MD/PA Activity DO
Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral muscular dystrophy is a genetically acquired disease that leads to progressive muscle weakness and severely decreased functional c ... Read the Article 0.75 5 Activity MD/PA Activity DO
Factor XIII Deficiency Factor XIII deficiency is a rare bleeding disorder that is challenging to recognize clinically. The lab tests such as the prothrombin time, INR, and a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Fahr Syndrome Fahr disease is a rare neurological condition characterized by abnormal idiopathic calcification of basal ganglia and commonly has an autosomal domina ... Read the Article 1 6 Activity MD/PA Activity DO
Familial Adenomatous Polyposis Familial adenomatous polyposis (FAP) or familial polyposis coli (FPC) is an autosomal dominant polyposis syndrome with varying degrees of penetrance. ... Read the Article 1.25 13 Activity MD/PA Activity DO
Familial Hypercholesterolemia Familial hypercholesterolemia is known as a group of inherited genetic defects that lead to the severe elevation of serum cholesterol concentrations. ... Read the Article 1.5 18 Activity MD/PA Activity DO
Familial Hyperlipidemia Type 1 Familial hyperlipidemia Type 1, commonly known as familial hyperchylomicronemia syndrome, is a rare autosomal recessive metabolic disorder that is cau ... Read the Article 0.75 5 Activity MD/PA Activity DO
Familial Hyperlipidemia Type 2a Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism presenting at birth. It is characterized by very high low-den ... Read the Article 0.75 4 Activity MD/PA Activity DO
Familial Hypocalciuric Hypercalcemia Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition. It occurs as a result of mutations in the calcium-sensing receptor ... Read the Article 0.75 4 Activity MD/PA Activity DO
Familial Mediterranean Fever Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that mainly affects people of Mediterranean origin. FMF is characterized by ... Read the Article 1 6 Activity MD/PA Activity DO
Fanconi Anemia Fanconi anemia is a rare genetic disorder, involving all three blood cell lines. It is the most common cause of inherited bone marrow failure characte ... Read the Article 1 8 Activity MD/PA Activity DO
Fanconi Syndrome Fanconi syndrome, not to be confused with Fanconi anemia, is a defect of the proximal tubule that prevents the absorption of electrolytes and other su ... Read the Article 0.75 6 Activity MD/PA Activity DO
Fatal Familial Insomnia Fatal familial insomnia is a very rare and invariably fatal autosomal dominant neurodegenerative prion disease caused by a mutation of the prion prote ... Read the Article 1 9 Activity MD/PA Activity DO
Fibrous Dysplasia Fibrous dysplasia is a typically benign bone lesion characterized by intramedullary fibro-osseous proliferation secondary to altered osteogenesis. The ... Read the Article 1 7 Activity MD/PA Activity DO
Follicular Adenoma Follicular adenomas are a common benign neoplasm encountered in clinical practice. They usually present as a solitary thyroid nodule, but other presen ... Read the Article 1 5 Activity MD/PA Activity DO
Follicular Lymphoma Follicular lymphoma (FL) is the second most common type of non-Hodgkin lymphoma (NHL) and accounts for up 30% of all lymphomas. FL is a generally lazy ... Read the Article 1 8 Activity MD/PA Activity DO
Fragile X Syndrome Fragile X syndrome (FXS), also called Martin-Bell syndrome, is a non-Mendelian trinucleotide repeat disorder. FXS is the most prevalent inherited caus ... Read the Article 1 9 Activity MD/PA Activity DO
Friedreich Ataxia Friedreich ataxia is an inherited disease affecting the nervous system, which produces progressive ataxia, weakness, and sensory deficits. It is inher ... Read the Article 1 5 Activity MD/PA Activity DO
Frontotemporal Lobe Dementia Frontotemporal dementia is a neurodegenerative disorder characterized by loss of intellectual functions, such as memory problems, impaired abstract th ... Read the Article 0.75 6 Activity MD/PA Activity DO
Fructose 1-Phosphate Aldolase Deficiency Fructose 1-phosphate aldolase deficiency or hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by the deficiency in aldol ... Read the Article 1 7 Activity MD/PA Activity DO
Fuchs Endothelial Dystrophy Fuchs endothelial corneal dystrophy (FED) is a progressive hereditary disease of the cornea characterized by the slow deterioration of endothelial cel ... Read the Article 1 5 Activity MD/PA Activity DO
Galactokinase Deficiency Galactokinase deficiency or galactosemia type II is a rare inborn error of galactose metabolism. Galactosemia type II is rarer and more insidious than ... Read the Article 0.75 4 Activity MD/PA Activity DO
Galactose 1 Phosphate Uridyltransferase Deficiency Galactosemia is an inborn error of metabolism due to impaired degradation of galactose. If not recognized and treated promptly, affected infants may d ... Read the Article 1.25 13 Activity MD/PA Activity DO
Gardner Syndrome Gardner syndrome is a phenotypic variant of familial adenomatous polyposis. It is an autosomal dominant disease characterized by numerous adenomatous ... Read the Article 1 8 Activity MD/PA Activity DO
Gastrinoma Gastrinomas are neuroendocrine tumors characterized by the secretion of gastrin with resultant excessive gastric acid production causing severe peptic ... Read the Article 0.75 6 Activity MD/PA Activity DO
Gaucher Disease Gaucher disease is an autosomal recessive inborn error of metabolism due to the toxic accumulation of glucocerebroside lipids in various organs. It re ... Read the Article 1.25 14 Activity MD/PA Activity DO
Generalized Pustular Psoriasis Generalized pustular psoriasis is a rare and extreme form of psoriasis characterized by the presence of sterile pustules. The incidence peaks between ... Read the Article 0.75 3 Activity MD/PA Activity DO
Germ Cell Seminoma Germinoma is an uncommon pediatric brain tumor that is morphologically identical to its gonadal counterpart: testicular seminoma and ovarian dysgermin ... Read the Article 1 7 Activity MD/PA Activity DO
Giant Cell Tumor Giant cell tumor is one of the most common benign bone tumors, occurring in young adults ages 20–40 years with a high recurrence rate and a potential ... Read the Article 1 9 Activity MD/PA Activity DO
Gilbert Syndrome Gilbert syndrome is a genetic disorder of bilirubin metabolism in the liver. There is decreased glucuronidation and excretion of bilirubin leading to ... Read the Article 1 10 Activity MD/PA Activity DO
Gitelman Syndrome Gitelman syndrome is a salt-losing tubulopathy caused by mutation of genes encoding sodium chloride (NCCT) and magnesium transporters in the thiazide- ... Read the Article 0.75 6 Activity MD/PA Activity DO
Glanzmann Thrombasthenia Glanzmann thrombasthenia is a congenital bleeding disorder caused by a deficiency of the platelet integrin alpha IIb beta3. This integrin is the plate ... Read the Article 0.75 4 Activity MD/PA Activity DO
Gliomas Glioma is the most common form of central nervous system (CNS) neoplasm that originates from glial cells. In the United States, there are six cases of ... Read the Article 1 8 Activity MD/PA Activity DO
Glomus Cancer Glomangioma or glomuvenous malformation is a rare cutaneous venous malformation that shows glomus cells (undifferentiated smooth muscle cells which ar ... Read the Article 0.75 6 Activity MD/PA Activity DO
Glucose 6 Phosphate Dehydrogenase Deficiency Glucose-6-phosphate dehydrogenase is an enzyme found in the cytoplasm of all cells in the body. It is a housekeeping enzyme that plays a vital role in ... Read the Article 0.75 5 Activity MD/PA Activity DO
Glycogen Storage Disease Glycogen storage diseases (GSDs) are inherited inborn errors of metabolism of carbohydrates. In general, these results from a lack of specific enzymes ... Read the Article 1 8 Activity MD/PA Activity DO
Glycogen Storage Disease Type II Glycogen storage disease type II, also known as Pompe disease, is a metabolic disorder creating glycogen deposits inside lysosomes within the muscular ... Read the Article 0.75 5 Activity MD/PA Activity DO
Gorlin Syndrome Gorlin syndrome, also called Gorlin-Goltz syndrome, basal cell nevus syndrome (BCNS), or nevoid basal cell carcinoma syndrome, is an autosomal dominan ... Read the Article 0.75 5 Activity MD/PA Activity DO
Gout Gout is one of the most common causes of chronic inflammatory arthritis in the United States, which is characterized by monosodium urate (MSU) monohyd ... Read the Article 1.25 14 Activity MD/PA Activity DO
Gyrate Atrophy Of The Choroid and Retina Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by elevation of plasma ornithine levels due to deficien ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hallervorden Spatz Disease Hallervorden-Spatz disease now known as pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive neurodegenerative disord ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hartnup Disease Hartnup disease is an autosomal recessive disorder resulting in impaired functioning of transport protein in intestines and kidneys. This results in w ... Read the Article 1 9 Activity MD/PA Activity DO
Hearing Loss The management of hearing loss is challenging and complex. To achieve good outcomes, the goals and objectives of hearing loss management must be defin ... Read the Article 1 10 Activity MD/PA Activity DO
Hemarthrosis Hemarthrosis is a condition of articular bleeding, that is into the joint cavity. This can occur after an injury or, more commonly, in bleeding disord ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hemiplegic Migraine A hemiplegic migraine is a rare form of migraine in which the migraine headache attack is accompanied by unilateral weakness. Typically, migraine aura ... Read the Article 1 7 Activity MD/PA Activity DO
Hemochromatosis Hemochromatosis is a disorder that causes excess iron deposition and, in turn, multiple organ dysfunction. Organs affected by hemochromatosis include ... Read the Article 1.5 23 Activity MD/PA Activity DO
Hemoglobin C Disease Hemoglobin C is a common hemoglobin variant that has a single amino acid substitution (lysine substituted for the glutamate) in the sixth position of ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hemolytic Anemia Hemolytic anemia is a class of anemia that is caused by the destruction of red blood cells, increased hemoglobin catabolism, decreased levels of hemog ... Read the Article 1 9 Activity MD/PA Activity DO
Hemolytic Diseases Of The Newborn Hemolytic disease of the fetus and newborn is a red blood cell mismatch between mothers and their fetus that can cause significant morbidity and morta ... Read the Article 1 6 Activity MD/PA Activity DO
Hemophilia Hemophilia A and B are the most common severe hereditary hemorrhagic disorders. Hemophilia A and B result from factor VIII and factor IX protein defic ... Read the Article 1.25 10 Activity MD/PA Activity DO
Hemophilia A Hemophilia encompasses a group of inherited disorders that alter blood coagulation. Classical hemophilia, also known as hemophilia A, is a hereditary ... Read the Article 1 10 Activity MD/PA Activity DO
Hemophilia B Hemophilia B is an inherited disease, mainly caused by the deficiency of factor IX. It mostly affects males, but carrier females may show some signs o ... Read the Article 0.75 4 Activity MD/PA Activity DO
Hereditary Angioedema Hereditary angioedema (HAE) is an autosomal dominant disease caused by either a lack of C1-inhibitor protein or by dysfunctional C1-inhibitor protein. ... Read the Article 1 11 Activity MD/PA Activity DO
Hereditary Fructose Intolerance Hereditary fructose intolerance is an autosomal recessive disorder where patients lack the enzyme to breakdown fructose-1-phosphate. This disease usua ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hereditary Spherocytosis Hereditary spherocytosis, a type of congenital hemolytic anemia, is the most prevalent cause of hemolytic anemia due to an abnormal red cell membrane. ... Read the Article 1.5 20 Activity MD/PA Activity DO
Herpes Zoster Ophthalmicus Herpes zoster ophthalmicus occurs due to the reactivation of the latent varicella-zoster virus. It is a variation of herpes zoster that can cause a va ... Read the Article 1 7 Activity MD/PA Activity DO
Hirschsprung Disease Hirschsprung disease (HD) is a congenital disorder characterized by the absence of ganglion cells (GC) at the Meissner's plexus (submucosa) and Auerba ... Read the Article 1 9 Activity MD/PA Activity DO
Holt Oram Syndrome Holt-Oram syndrome also referred to as the heart-hand syndrome, is an autosomal dominant disorder that is distinguished by upper limb abnormalities in ... Read the Article 0.75 6 Activity MD/PA Activity DO
Horseshoe Kidney Horseshoe kidneys are the most common fusion defect of the kidneys occurring in approximately 1:500 individuals. They are characterized by abnormaliti ... Read the Article 1 8 Activity MD/PA Activity DO
Huntington Disease Huntington disease (HD), a neurodegenerative autosomal dominant disorder, is characterized by involuntary choreatic movements with cognitive and behav ... Read the Article 1.25 15 Activity MD/PA Activity DO
Hurler Syndrome Hurler syndrome, also known as mucopolysaccharidosis type I (MPH I), is one of the eleven mucopolysaccharidoses (MPS) disorders. Hurler syndrome was f ... Read the Article 0.75 4 Activity MD/PA Activity DO
Hydranencephaly Hydranencephaly is a rare congenital abnormality in which the cerebral hemispheres are absent with the basal ganglia, brainstem and meninges preserved ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hydrocephalus Hydrocephalus is the symptomatic accumulation of cerebrospinal fluid inside the cerebral ventricles. It has complex pathogenesis and different causes. ... Read the Article 1.25 12 Activity MD/PA Activity DO
Hydrocodone Hydrocodone is a schedule II semi-synthetic opioid medication used to treat pain. Hydrocodone is also an antitussive indicated for cough in adults. In ... Read the Article 1 7 Activity MD/PA Activity DO
Hyperacusis Hyperacusis is a rare hearing disorder characterized by a decreased tolerance to sound where patients report excessive loudness or pain, often leading ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypercalciuria Hypercalciuria is generally considered to be the most common identifiable metabolic risk factor for calcium nephrolithiasis. It also contributes to os ... Read the Article 1 6 Activity MD/PA Activity DO
Hypercholesterolemia Lipoprotein disorders are clinically important due to the of the role of lipoproteins in atherogenesis and the associated risk of atherosclerotic card ... Read the Article 1 7 Activity MD/PA Activity DO
Hyperhomocysteinemia Hyperhomocysteinemia refers to the condition where there is greater than 15 micromol/L of homocysteine in the blood. This condition is present in a wi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hyperphosphatemia This article summarises the basics of Hyperphosphatemia, including its pathophysiology, evaluation, and management. Though this condition is seen more ... Read the Article 1 6 Activity MD/PA Activity DO
Hyperpituitarism The pituitary gland produces and secretes various hormones that play a vital role in regulating endocrine function within the body. The pituitary glan ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypertrichosis Hypertrichosis is defined as excessive hair growth anywhere on the body in either males or females. It is important to distinguish hypertrichosis from ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by a mutation in sarcomere protein genes which effect contraction of the hea ... Read the Article 1.25 17 Activity MD/PA Activity DO
Hypertrophic Obstructive Cardiomyopathy Hypertrophic obstructive cardiomyopathy (HOCM), historically referred to as idiopathic hypertrophic subaortic stenosis, is a relatively common disorde ... Read the Article 1 11 Activity MD/PA Activity DO
Hypoaldosteronism Hypoaldosteronism is a clinical condition characterized by a deficiency of aldosterone or its impaired action at the tissue level. The disorder may re ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypokalemic Periodic Paralysis Hypokalemic periodic paralysis is a rare channelopathy caused by the skeletal muscle ion channel mutations, commonly calcium channel and less commonly ... Read the Article 1 7 Activity MD/PA Activity DO
Hypomelanosis of Ito Hypomelanosis of Ito (HI), or pigmentary mosaicism, was previously named incontinentia pigmenti achromians. The disease is currently named hypomelanos ... Read the Article 0.75 4 Activity MD/PA Activity DO
Hypoparathyroidism Parathyroid hormone deficiency, also called hypoparathyroidism, results in hypocalcemia, hyperphosphatemia, and increased neuromuscular irritability. ... Read the Article 1 9 Activity MD/PA Activity DO
Hypospadias Hypospadias is an anatomical congenital malformation of the male external genitalia. It is characterized by abnormal development of the urethral fold ... Read the Article 1 7 Activity MD/PA Activity DO
Hypothalamic Hamartoma Hypothalamic hamartomas are congenital non-progressive lesions in the hypothalamus. These lesions usually develop a disabling course presenting with m ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypotonia Hypotonia is an easily recognizable entity but determining the etiology is a challenging task for a clinician given its vast differential. Systematica ... Read the Article 1.25 11 Activity MD/PA Activity DO
Ichthyosis Fetalis Harlequin ichthyosis (HI) is an extremely rare, autosomal recessive congenital disorder of the epidermal skin layer. Neonates with HI have a high mort ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ichthyosis X-Linked X-linked ichthyosis (XLI), known as steroid sulfatase (STS) deficiency and X-linked recessive ichthyosis, is a genetic skin disorder recognized in 196 ... Read the Article 0.75 5 Activity MD/PA Activity DO
Idiopathic Guttate Hypomelanosis Idiopathic guttate hypomelanosis (IGH) is a benign, typically asymptomatic, leukodermic dermatosis of unclear etiology that is classically seen in eld ... Read the Article 0.75 5 Activity MD/PA Activity DO
IgA Nephropathy IgA nephropathy is a common forms of glomerulonephritis caused by the deposition of IgA type immunoglobulins in the glomerular basement membrane. Immu ... Read the Article 1 8 Activity MD/PA Activity DO
Imatinib Imatinib is a medication used in the management and treatment of chronic myelogenous leukemia, gastrointestinal stromal tumors, and other malignancies ... Read the Article 1 10 Activity MD/PA Activity DO
Immunodeficiency Immunodeficiency results from a failure or absence of elements of the immune system, including lymphocytes, phagocytes, and complement system. Immunod ... Read the Article 1 8 Activity MD/PA Activity DO
Immunotherapy Immunotherapy is used to upregulate or downregulate the immune system to achieve a therapeutic effect in immunological mediated disorders including im ... Read the Article 1 7 Activity MD/PA Activity DO
Impaired Bilirubin Conjugation Bilirubin circulates in both the unconjugated and conjugated forms. Disorders of impaired conjugation of bilirubin classically present with elevated l ... Read the Article 1 7 Activity MD/PA Activity DO
Imperforate Anus Imperforate anus or anal atresia is a congenital anorectal malformation (ARM) where a normal anal opening is absent at birth. ARMs comprise of a broad ... Read the Article 0.75 5 Activity MD/PA Activity DO
Inborn Errors Of Metabolism Inborn errors of metabolism are a heterogeneous group of disorders that may be inherited or may occur as the result of spontaneous mutations. These di ... Read the Article 1 8 Activity MD/PA Activity DO
Infantile Cortical Hyperostosis Infantile cortical hyperostosis (ICH), also known as Caffey disease, was first reported by Roske in 1930 and described by Caffey and Silverman in 1945 ... Read the Article 1 8 Activity MD/PA Activity DO
Infantile Spasms Infantile spasms (IS) is a seizure disorder that was first described by William West in 1841 and has been referred to as West syndrome. It is a disord ... Read the Article 1 6 Activity MD/PA Activity DO
Ingrown Toenails An ingrown toenail is a common nail problem occurring when the nail plate grows into the periungual skin and causes inflammation and infection. It cau ... Read the Article 0.75 5 Activity MD/PA Activity DO
Insulin Resistance Insulin resistance is identified as an impaired biologic response to insulin stimulation of target tissues, primarily the liver, muscle, and adipose t ... Read the Article 1 9 Activity MD/PA Activity DO
Insulinoma Insulinoma is a type of functional neuroendocrine tumor characterized by hypersecretion of insulin causing hypoglycemia. This activity reviews the man ... Read the Article 1.25 16 Activity MD/PA Activity DO
Intellectual Disability Individuals with an intellectual disability have neurodevelopmental deficits characterized by limitations in intellectual functioning and adaptive beh ... Read the Article 1.5 21 Activity MD/PA Activity DO
Interferon Interferons are currently used clinically to treat viral infections such as hepatitis C, cancers including non-Hodgkin’s lymphoma, and autoimmune dise ... Read the Article 0.75 6 Activity MD/PA Activity DO
Intestinal Trauma Intestinal injury is common in both blunt and penetrating abdominal trauma. Due to the potentially life-threatening nature of these injuries, provider ... Read the Article 1 10 Activity MD/PA Activity DO
Intravenous Immunoglobulin (IVIG) Intravenous Immunoglobulin (IVIG) is a pooled antibody and a biological agent used in the management of various immunodeficiency states and a plethora ... Read the Article 1 10 Activity MD/PA Activity DO
Intraventricular Meningioma Intraventricular meningiomas show similar characteristics to those found in the extra-axial space. Their cells of origin are the same. However, extra- ... Read the Article 0.75 6 Activity MD/PA Activity DO
Jacobs Syndrome Jacob's syndrome is a rare genetic abnormality in which a male receives an extra Y chromosome from his father. While many patients go undiagnosed due ... Read the Article 1 7 Activity MD/PA Activity DO
Jervell and Lange Nielsen Syndrome Jervell and Lange Nielsen syndrome is a rare autosomal recessive disorder characterized by bilateral sensorineural hearing loss and a prolonged QTc in ... Read the Article 0.75 6 Activity MD/PA Activity DO
Job Syndrome Job Syndrome (Hyper-IgE syndrome) is a rare, primary immunodeficiency distinguished by the clinical triad of atopic dermatitis, recurrent skin staphyl ... Read the Article 0.75 5 Activity MD/PA Activity DO
Juvenile Absence Epilepsy Juvenile absence epilepsy is an idiopathic generalized epilepsy syndrome that is recognized by the ILAE (International League Against Epilepsy) that t ... Read the Article 1 7 Activity MD/PA Activity DO
Kallmann Syndrome Kallmann Syndrome (KS) is a congenital form of hypogonadotropic hypogonadism (HH) that manifests with hypo- or anosmia. This decrease in gonadal funct ... Read the Article 0.75 5 Activity MD/PA Activity DO
Kearns Sayre Syndrome Kearns-Sayre syndrome (KSS) is a subtype of chronic progressive external ophthalmoplegia (CPEO). KSS is defined by the following triad: Onset before t ... Read the Article 0.75 5 Activity MD/PA Activity DO
Keratoendotheliitis Fugax Hereditaria Keratoendotheliitis fugax hereditaria is a rare inflammatory genetic condition characterized by recurrent episodes of debilitating unilateral corneal ... Read the Article 0.75 5 Activity MD/PA Activity DO
Keratosis Follicularis Darier disease, also known as keratosis follicularis, is a genodermatosis that is inherited in an autosomal dominant fashion. The disease classically ... Read the Article 0.75 5 Activity MD/PA Activity DO
Klinefelter Syndrome Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. The clinical phenotype of KS was first described in males wit ... Read the Article 1.25 16 Activity MD/PA Activity DO
Klippel Feil Syndrome Klippel-Feil syndrome presents with an abnormal fusion of 2 or more bones in the cervical spine. This creates a characteristic appearance of a short n ... Read the Article 0.75 4 Activity MD/PA Activity DO
Klippel Trenaunay Weber Syndrome Klippel Trenaunay syndrome is cutaneous vascular malformation syndrome involving a triad of capillary and venous malformation and limb hypertrophy. Th ... Read the Article 0.75 5 Activity MD/PA Activity DO
Krabbe Disease Krabbe disease, an autosomal recessive disease, is a type of lysosomal storage disorder that results from the deficiency of the enzyme galactocerebros ... Read the Article 0.75 6 Activity MD/PA Activity DO
Lafora Disease Lafora disease is a type of progressive myoclonic epilepsy that is inherited in an autosomal recessive manner and typically presents in previously hea ... Read the Article 0.75 6 Activity MD/PA Activity DO
Landau Kleffner Syndrome Landau-Kleffner syndrome is a rare age-related epileptic encephalopathy that usually manifests itself in children aged 3 to 8 years with previously no ... Read the Article 0.75 5 Activity MD/PA Activity DO
Laser Treatment Of Pigmented Lesions Lasers are often used in the treatment of pigmented lesions of the mucosa and skin. Their minimally invasive nature, combined with their efficacy, has ... Read the Article 1 5 Activity MD/PA Activity DO
Lattice Corneal Dystrophy Lattice corneal dystrophy (LCD) is an inherited disorder of the eye characterized by the deposition of amyloid resulting in steadily progressive loss ... Read the Article 1 6 Activity MD/PA Activity DO
Laugier-Hunziker Syndrome Laugier-Hunziker syndrome, also known as Laugier-Gerbig-Hunziker syndrome or Laugier-Hunziker-Baran syndrome or idiopathic lenticular mucocutaneous pi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Learning Disability Learning disabilities (LDs) refer to a number of disorders that may affect the acquisition, organization, retention, comprehension, or the use of both ... Read the Article 1 9 Activity MD/PA Activity DO
Leber Hereditary Optic Leber hereditary optic neuropathy (LHON) is a rare mitochondrial disorder that typically presents in young males with progressive visual loss due to o ... Read the Article 0.75 5 Activity MD/PA Activity DO
Left Ventricular Non-compaction Cardiomyopathy Left ventricular non-compaction (LVNC) is a very rare congenital cardiomyopathy. It is a disease of endomyocardial trabeculations that increase in num ... Read the Article 0.75 4 Activity MD/PA Activity DO
Lesch Nyhan Syndrome Lesch Nyhan Syndrome is an inborn disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, an enzyme of purine ... Read the Article 1 9 Activity MD/PA Activity DO
Leukemia Leukemia is a heterogeneous group of hematologic malignancies that arise from dysfunctional proliferation of developing leukocytes. It is classified a ... Read the Article 1 7 Activity MD/PA Activity DO
Leukemia Cutis Leukemia cutis is skin involvement in patients with peripheral leukemia; it is relatively rare and typically signifies an advanced disease stage. This ... Read the Article 1 7 Activity MD/PA Activity DO
Leukocyte Adhesion Deficiency Leukocyte adhesion deficiency (LAD) is an immunodeficiency disorder involving both B and T cells and is characterized by an inability of leukocytes to ... Read the Article 0.75 5 Activity MD/PA Activity DO
Li-Fraumeni Syndrome Li Fraumeni syndrome, also known as sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome, is a rare inherited autosomal dominant disorder asso ... Read the Article 0.75 5 Activity MD/PA Activity DO
Lipemia Retinalis Lipemia retinalis (LR) is characterized by creamy white discoloration of retinal vessels. It is a feature of chylomicronemia. Proper ophthalmic evalua ... Read the Article 0.75 6 Activity MD/PA Activity DO
Lipoid Pneumonia Lipoid pneumonia is a rare form of lung disease due to aspiration or inhalation of exogenous or endogenous lipid-containing products. In the past, thi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Lipoma Lipomas are common, benign subcutaneous tumors of fat cells (adipocytes) that present as soft, painless nodules that are most commonly seen on the tru ... Read the Article 1 10 Activity MD/PA Activity DO
Lipoprotein Lipase Deficiency Lipoprotein lipase deficiency is a rare autosomal recessive genetic disorder of lipid metabolism. It is characterized by severe hypertriglyceridemia a ... Read the Article 1 6 Activity MD/PA Activity DO
Lisch Nodules Lisch nodules, traditionally described as iris hamartomas is one of the pathognomic markers of neurofibromatosis type 1 (NF1) and are rarely seen in i ... Read the Article 1 7 Activity MD/PA Activity DO
Lissencephaly Lissencephaly is a spectrum of severe and rare brain malformations. It is caused by non-genetic and genetic factors. Treatment of children with lissen ... Read the Article 0.75 6 Activity MD/PA Activity DO
Liver Function Tests The liver has a significant role in metabolism, regulation of red blood cells (RBCs) and glucose synthesis and storage. The liver function tests typic ... Read the Article 0.75 5 Activity MD/PA Activity DO
Liver Transplantation Cirrhosis and decompensated liver disease were the ninth leading cause of death for males in 2016 in the United States. Liver transplantation (LT) is ... Read the Article 1 5 Activity MD/PA Activity DO
Loose Anagen Syndrome Loose anagen syndrome is inherited in an autosomal dominant or sporadic fashion. Clinically it manifests as diffuse non-scarring alopecia in children. ... Read the Article 0.75 6 Activity MD/PA Activity DO
Low HDL Cholesterol HDL cholesterol levels have been believed to be cardioprotective for many years. Recent studies examining pharmacologic elevation of HDL through vario ... Read the Article 0.75 5 Activity MD/PA Activity DO
Lymphangioma Lymphangiomas are uncommon, benign malformations of the lymphatic system that can occur anywhere on the skin and mucous membranes. Lymphangiomas can b ... Read the Article 0.75 4 Activity MD/PA Activity DO
Lymphedema Lymphedema is a chronic disease marked by the increased collection of lymphatic fluid in the body, causing swelling, which can lead to skin and tissue ... Read the Article 1 8 Activity MD/PA Activity DO
Lymphoblastic Lymphoma Acute lymphoblastic leukemia (ALL)/lymphoblastic lymphoma (LBL) is a clonal hematopoietic stem cell disorder of B or T cell origin. The World Health O ... Read the Article 0.75 4 Activity MD/PA Activity DO
Lynch Syndrome Most colorectal cancers occur sporadically; however, inherited cancer syndromes or inherited mutations cause approximately 5 to 10 percent of cases. T ... Read the Article 0.75 5 Activity MD/PA Activity DO
Lysosomal Storage Disease Lysosomal storage diseases (LSDs) are inborn errors of metabolism characterized by the accumulation of substrates in excess in various organs' cells d ... Read the Article 1 5 Activity MD/PA Activity DO
Lytic Bone Lesions Bone tumors are mostly benign. Most important determinants in imaging of bone tumors are morphology on plain radiograph (well defined lytic, ill-defin ... Read the Article 0.75 5 Activity MD/PA Activity DO
Malabsorption Syndromes This activity is a brief overview of malabsorption symptoms as they pertain to fat, carbohydrate, protein, vitamin, mineral, and trace elements digest ... Read the Article 1 8 Activity MD/PA Activity DO
Mandibulofacial Dysostosis Treacher Collins syndrome is a congenital disorder of craniofacial development that has variable phenotypic expression. It can be inherited in an auto ... Read the Article 0.75 5 Activity MD/PA Activity DO
Maple Syrup Urine Disease Maple syrup urine disease is a rare, inborn error of metabolism, resulting in decreased branched-chain ketoacid dehydrogenase enzyme activity. It can ... Read the Article 1 6 Activity MD/PA Activity DO
Marfan Syndrome One of the most common inherited disorders affecting connective tissue, Marfan syndrome (MFS) is an autosomal dominant condition with a reported incid ... Read the Article 1 10 Activity MD/PA Activity DO
Maturity Onset Diabetes in the Young The most commonly recognized forms of diabetes mellitus include type 1 diabetes, an autoimmune disorder, and type 2 diabetes, a polygenic disorder inf ... Read the Article 1 8 Activity MD/PA Activity DO
May Hegglin Anomaly May-Hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and ... Read the Article 0.75 6 Activity MD/PA Activity DO
McArdle Disease McArdle disease is a genetic disorder that mainly affects skeletal muscles. It occurs due to the deficiency or absence of an enzyme called myophosphor ... Read the Article 0.75 6 Activity MD/PA Activity DO
McCune Albright Syndrome McCune-Albright syndrome is a rare genetic disordered originally recognized by the triad of polyostotic fibrous dysplasia, precocious puberty, and caf ... Read the Article 0.75 5 Activity MD/PA Activity DO
Medium-Chain Acyl-COA Dehydrogenase Deficiency Medium-chain acyl-COA dehydrogenase (MCAD) deficiency is one of the most common fatty acid ß-oxidation disorders. It is an autosomal recessive disorde ... Read the Article 0.75 6 Activity MD/PA Activity DO
Medulloblastoma While leukemias are the most common type of malignancy affecting the pediatric population, brain tumors are the most common solid tumors in this popul ... Read the Article 1.25 14 Activity MD/PA Activity DO
Megalocornea Megalocornea, also known as anterior megalophthalmos, X-linked megalocornea, and macrocornea, is a rare bilateral nonprogressive congenital defect tha ... Read the Article 0.75 5 Activity MD/PA Activity DO
Melas Syndrome Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial disease primarily affecting the nervous system an ... Read the Article 0.75 6 Activity MD/PA Activity DO
Meningocele Meningocele is one of the common congenital neural tube defects. Meningocele is the simplest form of open neural tube defects characterized by cystic ... Read the Article 1.25 14 Activity MD/PA Activity DO
Menkes Kinky Hair Disease Menkes kinky hair disease is a rare X-linked recessive progressive multisystemic disease of copper metabolism. Patients usually exhibit a severe clini ... Read the Article 1 6 Activity MD/PA Activity DO
Mercaptopurine Mercaptopurine is a medication used in the management and treatment of acute lymphoblastic leukemia. It is in the class of medications known as purine ... Read the Article 0.75 6 Activity MD/PA Activity DO
Meromelia Meromelia is defined as a partial absence of a free limb. Limb deficiencies have been known to be caused by chromosomal abnormalities, genetic disorde ... Read the Article 0.75 5 Activity MD/PA Activity DO
Metachromatic Leukodystrophy Metachromatic leukodystrophy is a rare lysosomal storage disease caused due to deficient activity of arylsulfatase A. It follows an autosomal recessiv ... Read the Article 1 8 Activity MD/PA Activity DO
Microcytic Hypochromic Anemia Microcytic, hypochromic anemia, as the name suggests, is the type of anemia in which the circulating RBCs are smaller than the usual size of RBCs (mic ... Read the Article 0.75 6 Activity MD/PA Activity DO
Micropenis Micropenis is a vital sign that can indicate a hormonal deficiency or genetic association. Early recognition of this condition is essential in providi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Midgut Volvulus A volvulus is a medical condition where the intestines twist upon themselves. This condition can occur at any age. However, it is more frequent in chi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Mitral Valve Repair Mitral valve repair is commonly used to treat mitral valve pathology due to mitral regurgitation. Mitral regurgitation (MR) is classified as primary o ... Read the Article 1.25 11 Activity MD/PA Activity DO
Monilethrix Described initially in 1897 by Walter Smith, monilethrix is a rare structural hair shaft disorder characterized by hair fragility and resulting in pat ... Read the Article 0.75 6 Activity MD/PA Activity DO
Moyamoya Disease Moyamoya disease (MMD) is an isolated chronic, usually bilateral, vasculopathy of undetermined etiology characterized by progressive narrowing of the ... Read the Article 0.75 4 Activity MD/PA Activity DO
Mucopolysaccharidosis Type II Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive disorder. It has an early age of onset with clinical symptoms involving m ... Read the Article 1 8 Activity MD/PA Activity DO
Muir-Torre Syndrome Muir-Torre Syndrome is an autosomal dominant phenotypic variant of hereditary non-polyposis colorectal cancer, which is also known as Lynch syndrome. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Multiple Endocrine Neoplasia Type 1 Multiple endocrine neoplasia Type 1 (MEN1), also known as Wermer syndrome, is a rare hereditary endocrine tumor syndrome. The most common tumors seen ... Read the Article 1 7 Activity MD/PA Activity DO
Multiple Endocrine Neoplasias Type 2 Multiple endocrine neoplasia type 2 (MEN 2) is a hereditary cancer syndrome associated primarily with tumors of the adrenal gland, thyroid and parathy ... Read the Article 1 9 Activity MD/PA Activity DO
Muscular Dystrophy The term "muscular dystrophy" incorporates an assortment of hereditary disorders that lead to progressive, generalized disease of the muscle prompted ... Read the Article 1 6 Activity MD/PA Activity DO
Myelodysplastic Syndrome Myelodysplastic syndrome (MDS) is a heterogeneous group of hematologic neoplasms classically described as a clonal disorder of hematopoietic stem cell ... Read the Article 0.75 4 Activity MD/PA Activity DO
Myeloperoxidase Deficiency Myeloperoxidase (MPO) is a hemoprotein expressed in azurophilic granules of neutrophils and in the lysosomes of monocytes. The enzyme has strong antib ... Read the Article 0.75 5 Activity MD/PA Activity DO
Myoclonic Epilepsy and Ragged Red Fibers Myoclonic epilepsy with red-ragged fibers (MERRF) is a rare multisystem mitochondrial disease with predominant progressive myoclonus. It is common in ... Read the Article 0.75 5 Activity MD/PA Activity DO
Myotonia Myotonia is an impairing disorder that resulted in the delayed relaxation of skeletal muscles after voluntary contraction. The illnesses, while rare, ... Read the Article 0.75 6 Activity MD/PA Activity DO
Myotonia Congenita Myotonia congenita (MC) is a genetic neuromuscular channelopathy which usually presents in early childhood resulting in a delay of skeletal muscle rel ... Read the Article 0.75 6 Activity MD/PA Activity DO
Myotonic Dystrophy Myotonic dystrophy is a rare progressive disorder that universally presents with weakness. In addition to musculoskeletal weakness, cardiac conduction ... Read the Article 1 9 Activity MD/PA Activity DO
Nail Patella Syndrome Nail patella syndrome (NPS) is a rare multisystemic disease with a classic clinical tetrad of fingernail dysplasia, hypoplasia or absence of the patel ... Read the Article 1 7 Activity MD/PA Activity DO
Neural Tube Disorders Neural tube defects are the most common severe central nervous system anomalies only second to cardiovascular abnormalities resulting in congenital mo ... Read the Article 1.25 12 Activity MD/PA Activity DO
Neuroacanthocytosis Neuroacanthocytosis refers to a group of inherited genetic disorders resulting in a combination of misshapen red blood cells (acanthocytes) and progre ... Read the Article 0.75 6 Activity MD/PA Activity DO
Neuroblastoma Neuroblastoma (NB) is the most frequently-occurring extracranial childhood tumor. It is classified as an embryonal neuroendocrine tumor, originating f ... Read the Article 1 12 Activity MD/PA Activity DO
Neurocutaneous Syndromes As the name implies, neurocutaneous syndromes are disorders involving the nervous system and the skin. Two of the most common neurocutaneous syndrome ... Read the Article 0.75 4 Activity MD/PA Activity DO
Neurofibroma Neurofibromas are the most common peripheral nerve sheath tumor and are often found either by patients or during routine skin exams. These lesions app ... Read the Article 1 8 Activity MD/PA Activity DO
Neurofibromatosis Neurofibromatosis is a neurocutaneous disorder characterized by tumors in the nervous system and skin. The most common types of neurofibromatosis are ... Read the Article 1 11 Activity MD/PA Activity DO
Neurofibromatosis Type 1 Neurofibromatosis-1 (NF-1) or Von Recklinghausen's disease is one of the inheritable neurocutaneous disorders manifested by developmental changes in t ... Read the Article 0.75 6 Activity MD/PA Activity DO
Neurofibromatosis Type 2 Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple tumors involving the central nervous sys ... Read the Article 0.75 6 Activity MD/PA Activity DO
Neuroma A neuroma is a benign tumor of nerve tissue that is often associated with pain or in specific types of various other symptoms. Neuromas most commonly ... Read the Article 0.75 5 Activity MD/PA Activity DO
Neuropathy About 2.4 percent of the population is affected by peripheral neuropathy. The prevalence increases to 8 percent in older populations. Peripheral neuro ... Read the Article 1 8 Activity MD/PA Activity DO
Nevus Flammeus Nevus flammeus or port-wine stain is a capillary malformation usually presenting as a unilateral pink or red patch anywhere on the body of a newborn. ... Read the Article 1 7 Activity MD/PA Activity DO
Nevus Of Ota And Ito Ocular dermal melanosis, also known as nevus of Ota or oculodermal melanocyte, is benign melanosis that involves the distribution of the trigeminal ne ... Read the Article 1 12 Activity MD/PA Activity DO
Niemann-Pick Disease The management of Niemann-Pick disease and new approaches have been recently introduced. To achieve optimal outcomes, the basic and clinical aspects ... Read the Article 1 8 Activity MD/PA Activity DO
Nonketotic Hyperglycinemia Nonketotic hyperglycinemia is a rare, genetic, inborn error of glycine metabolism. Due to a mutation in the glycine cleavage enzyme system, the patien ... Read the Article 0.75 5 Activity MD/PA Activity DO
Noonan Syndrome Noonan syndrome is typically a genetically inherited disorder with heterogeneous phenotypic manifestations, that can change with age. The most consist ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ochronosis Ochronosis is named for the reddish-brown hue of tissue termed "ochre-like" that was first described by a young physician named Archibald Garrod in th ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ocular Melanoma Ocular melanoma is diagnosed from ultrasonography, fluorescein angiography, enhanced depth imaging optical coherence tomography, and fine-needle aspir ... Read the Article 1 7 Activity MD/PA Activity DO
Oligodendroglioma Oligodendroglioma (OG) is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve ... Read the Article 0.75 5 Activity MD/PA Activity DO
Omphalocele Omphalocele is a rare congenital abdominal wall defect with a reported prevalence of 3.38 per 10,000 pregnancies. It is a protrusion of the abdominal ... Read the Article 0.75 4 Activity MD/PA Activity DO
Open Angle Glaucoma Open-angle glaucoma is a chronic, progressive, and irreversible multifactorial optic neuropathy that is characterized by an open angle of the anterior ... Read the Article 1.25 13 Activity MD/PA Activity DO
Optic Atrophy Optic atrophy is the hallmark of damage to the visual pathway. It appears as a pale disc on fundus examination. This clinical appearance is not a dise ... Read the Article 0.75 5 Activity MD/PA Activity DO
Optic Nerve Glioma Optic pathway gliomas are benign CNS tumors that primarily affect children. Although typically slow growing, the location of these tumors makes resect ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ornithine Transcarbamylase Deficiency Ornithine transcarbamylase deficiency is the most common of the urea cycle disorders. It is an X-linked genetic disorder that prevents the breakdown a ... Read the Article 0.75 4 Activity MD/PA Activity DO
Osler-Weber-Rendu Disease Hereditary hemorrhagic telangiectasia (HHT) is also known as Osler–Weber–Rendu disease. It is an autosomal dominant disorder characterized by multiple ... Read the Article 0.75 6 Activity MD/PA Activity DO
Osteitis Fibrosa Cystica Osteitis fibrosa cystica (OFC) is a skeletal disorder caused by an overproduction of parathyroid hormone from the overactive parathyroid glands. Ostei ... Read the Article 0.75 6 Activity MD/PA Activity DO
Osteochondroma Osteochondromas are common benign osseous surface lesions generally arising from the metaphysis of long bones. The lesions are most commonly asymptoma ... Read the Article 0.75 5 Activity MD/PA Activity DO
Osteogenesis Imperfecta Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. I ... Read the Article 1 11 Activity MD/PA Activity DO
Osteopetrosis The name osteopetrosis encompasses a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodeling leading ... Read the Article 0.75 6 Activity MD/PA Activity DO
Paget Disease Paget disease is a skeletal growth disorder in which abnormalities such as unusual bone growth can occur in several multifactoral ways. This is often ... Read the Article 1.5 22 Activity MD/PA Activity DO
Palmoplantar Psoriasis Palmoplantar psoriasis is a chronic variant of psoriasis that characteristically affects the skin of the palms and soles and produces significant func ... Read the Article 0.75 4 Activity MD/PA Activity DO
Pancreatic Serous Cystadenoma Pancreatic serous cystadenomas are mostly benign lesions. Their incidence has increased recently due to the improvements in imaging techniques nowaday ... Read the Article 1 6 Activity MD/PA Activity DO
Pancrelipase Therapy Pancrelipase, which is a combination of lipase, protease, and amylase, has been shown to benefit patients with exocrine pancreatic insufficiency. The ... Read the Article 1 7 Activity MD/PA Activity DO
Papillary Fibroelastoma Papillary fibroelastomas are one of the most common types of primary cardiac tumors. They are increasingly recognized as the spatial resolution of ima ... Read the Article 0.75 6 Activity MD/PA Activity DO
Paradoxical Embolism Paradoxical embolism is an uncommon cause for acute arterial occlusion. Paradoxical Embolism (PDE) occurs when a thrombus crosses an intracardiac def ... Read the Article 0.75 5 Activity MD/PA Activity DO
Parathyroidectomy Parathyroidectomy is the surgery to remove one or more of the parathyroid glands in the patient who has hyperparathyroidism with a varies of etiology. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Paroxysmal Nocturnal Hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease that presents clinically with a variety of nonspecific symptoms. It causes complications m ... Read the Article 1 8 Activity MD/PA Activity DO
Partial And Total Anomalous Pulmonary Venous Connection Total and partial anomalous venous connection comprises a wide spectrum of congenital cardiovascular malformations where one or more pulmonary veins r ... Read the Article 1 6 Activity MD/PA Activity DO
Patau Syndrome Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pectus Carinatum Pectus carinatum is a structural deformity of the chest wall that affects nearly 1 in 1000 teens, and early identification allows for more noninvasive ... Read the Article 1 7 Activity MD/PA Activity DO
Pediatric Functional Constipation Most individuals have bowel movements at regular intervals, and although the frequency varies from person to person, stools should pass without signif ... Read the Article 0.75 6 Activity MD/PA Activity DO
Pediatric Hearing Loss Pediatric hearing loss is a broad category that covers a wide range of pathologies. Early detection and prompt management are essential, as the develo ... Read the Article 1 7 Activity MD/PA Activity DO
Pediatric Umbilical Hernia An umbilical hernia presents as a bulge at the site of the umbilicus; it is a common finding during routine well-baby visits for the first few months ... Read the Article 1 7 Activity MD/PA Activity DO
Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher disease (PMD) is a demyelinating disorder of the CNS belonging to the group of hypomyelination leukodystrophies. This activity de ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pemphigus Vegetans Pemphigus is a group of vesiculobullous autoimmune diseases. The most common type of pemphigus is pemphigus vulgaris, characterized by mucocutaneous b ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pendred Syndrome Pendred syndrome is characterized by the combination of sensorineural hearing loss and thyroid goiter with or without hypothyroidism. This activity is ... Read the Article 0.75 6 Activity MD/PA Activity DO
Pentalogy of Cantrell Pentalogy of Cantrell is a collection of congenital malformations involving the heart, pericardium, diaphragm, sternum, and ventral abdominal wall. It ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pericholangitis The diagnostic criteria for small-duct primary sclerosing cholangitis (SDPSC) included biochemical features of chronic cholestasis with unknown etiolo ... Read the Article 0.75 5 Activity MD/PA Activity DO
Peritoneal Cancer Peritoneal cancer is the invasion of the serous membrane lining the peritoneal cavity by malignant cells. The malignant cells originate de novo in the ... Read the Article 1 6 Activity MD/PA Activity DO
Pernio Pernio also referred to as chilblains, is a rare inflammatory condition. The term "chilblains" derives from two Old English words "chill" (cold) and ... Read the Article 1 7 Activity MD/PA Activity DO
Peutz-Jeghers Syndrome Peutz-Jeghers syndrome (PJS) is a hereditary syndrome characterized by gastrointestinal (GI) polyposis, mucocutaneous pigmented macules, and predispos ... Read the Article 1 12 Activity MD/PA Activity DO
Pfeiffer Syndrome Pfeiffer syndrome is an inherited craniofacial disorder that is associated with primary craniosynostosis, midface hypoplasia, broad thumbs and great t ... Read the Article 0.75 6 Activity MD/PA Activity DO
PHACE Syndrome Infantile hemangioma is the most prevalent benign tumor of infancy, with an estimated incidence between 4 and 5 percent. Large facial segmental hemang ... Read the Article 1 7 Activity MD/PA Activity DO
Phenylketonuria Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (P ... Read the Article 1.25 14 Activity MD/PA Activity DO
Phenytoin Phenytoin is a medication used in the management and treatment of epilepsy, generalized tonic-clonic seizures, complex partial seizures, and status ep ... Read the Article 1.5 19 Activity MD/PA Activity DO
Phocomelia Phocomelia is a rare congenital anomaly where the proximal aspect of an extremity is absent with the hand or foot attached directly to the trunk. This ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pick Disease Pick disease, also known as frontotemporal dementia, is the most common cause of dementia in patients under 60 years of age and is the third most comm ... Read the Article 0.75 6 Activity MD/PA Activity DO
Piebaldism Piebaldism is an autosomal dominant disorder of melanocyte migration and development characterized by isolated congenital leukoderma (white skin) and ... Read the Article 0.75 4 Activity MD/PA Activity DO
Pierre Robin Syndrome Pierre Robin sequence is a constellation of micrognathia, glossoptosis, and upper airway obstruction. It is a clinical diagnosis that can range in sev ... Read the Article 0.75 5 Activity MD/PA Activity DO
Piezogenic Pedal Papule Piezogenic pedal papules are small papular herniations of subcutaneous tissue on the heel that occur only upon standing or with application of pressur ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pigmented Villonodular Synovitis Pigmented villonodular synovitis (PVNS) refers to a subtype of tenosynovial giant cell tumors that diffusely affect the soft tissue lining of joints a ... Read the Article 1 7 Activity MD/PA Activity DO
Pili Annulati Pili annulati is an inherited, rare, and benign hair shaft disorder characterized by a unique appearance of the hair with alternate light and dark ban ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pilocytic Astrocytoma Pilocytic astrocytoma is the most common childhood brain tumor and most often found in the posterior fossa. Complete resection usually cures the patie ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pleuropulmonary Blastoma Pleuropulmonary blastomas are rare, malignant mesenchymal tumors that typically present with non-specific symptoms. Radiologic features may increase t ... Read the Article 0.75 4 Activity MD/PA Activity DO
Poikilocytosis Poikilocytosis is the term for abnormally shaped red blood cells in the blood. Poikilocytes may be flat, elongated, teardrop-shaped, crescent-shaped, ... Read the Article 1 7 Activity MD/PA Activity DO
Poikiloderma Congenitale Congenital poikiloderma, also known as Rothmund-Thomson syndrome (RTS), is a rare genodermatosis with autosomal recessive inheritance. It is character ... Read the Article 0.75 2 Activity MD/PA Activity DO
Poland Syndrome Poland syndrome consists of anatomic anomalies that include the absence of the sternocostal head of the pectoralis major muscle with other varied mani ... Read the Article 1 7 Activity MD/PA Activity DO
Polycystic Kidney Disease Polycystic kidney disease (ADPKD) is an autosomal dominant disorder. It is a multisystem and progressive disease with cysts formation and kidney enlar ... Read the Article 1.25 13 Activity MD/PA Activity DO
Polycystic Kidney Disease Of Childhood There are two inherited varieties of polycystic kidney disease (PKD): autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive pol ... Read the Article 1 7 Activity MD/PA Activity DO
Polydactyly Polydactyly may indicate the presence of a very serious underlying disease or may present as an isolated finding. It may present in upper extremity or ... Read the Article 0.75 5 Activity MD/PA Activity DO
Polygenic Hypercholesterolemia Hypercholesterolemia causes atherosclerotic vascular disease leading to the development of coronary artery disease, transient ischemic attack, stroke, ... Read the Article 0.75 6 Activity MD/PA Activity DO
Polyglandular Autoimmune Syndrome Type II Polyglandular autoimmune syndrome type 2 (PAS-2) is an autoimmune syndrome which leads to lymphocytic infiltration causing organ-specific damage. PAS- ... Read the Article 1 8 Activity MD/PA Activity DO
Portal Vein Thrombosis Portal vein thrombosis (PVT) is a narrowing or blockage of the portal vein by a blood clot. Thrombosis can develop in the main body of the portal vein ... Read the Article 0.75 5 Activity MD/PA Activity DO
Potter Syndrome Potter syndrome is a fatal congenital disorder characterized by the changes in physical appearances of neonate due to oligohydramnios caused by renal ... Read the Article 1 6 Activity MD/PA Activity DO
Prader-Willi Syndrome Prader Willi syndrome (PWS) is a rare and complex genetic disease. The condition has numerous implications on metabolic, endocrine, and neurologic sys ... Read the Article 1 9 Activity MD/PA Activity DO
Precocious Pseudopuberty Precocious puberty is traditionally defined as the appearance of secondary sexual characteristics before the age of eight years in girls and nine year ... Read the Article 1 5 Activity MD/PA Activity DO
Precocious Puberty Precocious puberty is an early onset of puberty and secondary sexual characteristics in children. It is a very challenging diagnosis as the differenti ... Read the Article 1 6 Activity MD/PA Activity DO
Preconception Counseling Preconception counseling is defined as health education and promotion. The goal of preconception care is health education and promotion, risk assessme ... Read the Article 0.75 5 Activity MD/PA Activity DO
Premalignant Lesions Of The Endometrium Premalignant lesions of the endometrium are a characteristic sequence of atypical endometrial hyperplasia or intraepithelial neoplasia that may give r ... Read the Article 0.75 5 Activity MD/PA Activity DO
Prenatal Screening Historically, pregnancy was a very tenuous part of a woman's life because of the high mortality rate associated with gestation. In the early 1900s, ma ... Read the Article 0.75 4 Activity MD/PA Activity DO
Primary Amenorrhea Amenorrhea is defined as the absence of menarche in females of reproductive age. Primary amenorrhea is defined as the failure of initiation of menses ... Read the Article 0.75 5 Activity MD/PA Activity DO
Primary Bone Cancer Primary bone cancers are rare malignant tumors originating in bone and derived from primitive mesenchymal cells. They are frequently aggressive tumors ... Read the Article 1.25 13 Activity MD/PA Activity DO
Primitive Neuroectodermal Tumor In 2016, the World Health Organization published a revised classification of central nervous system tumors using molecular parameters. In this classif ... Read the Article 0.75 5 Activity MD/PA Activity DO
Progeria Werner syndrome, also known as adult progeria, is a rare autosomal recessive condition that begins in late adolescence or early adulthood and leads to ... Read the Article 0.75 4 Activity MD/PA Activity DO
Prune Belly Syndrome Prune belly syndrome is a rare congenitally acquired disorder primarily characterized by the clinical triad of deficient abdominal musculature, crypto ... Read the Article 1 8 Activity MD/PA Activity DO
Pruritus Gravidarum Pruritus is a common symptom in pregnancy. The causes of pruritus can be unrelated or specific to pregnancy. Pruritus specific to pregnancy must be ad ... Read the Article 0.75 6 Activity MD/PA Activity DO
Pseudocholinesterase Deficiency Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholineste ... Read the Article 0.75 4 Activity MD/PA Activity DO
Pseudohypoparathyroidism Pseudohypoparathyroidism is a rare disorder where patients are resistant to parathyroid hormone. Parathyroid hormone resistance leads to hypocalcemia ... Read the Article 0.75 6 Activity MD/PA Activity DO
Pulmonary Arteriovenous Malformation A pulmonary arteriovenous malformation (PAVM) is a rare pulmonary condition described as a pathologic right-to-left shunt which impairs gas exchange a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pulmonary Hypertension Pulmonary hypertension encompasses a heterogeneous group of disorders with the common feature of elevated pulmonary vascular resistance. Patients ofte ... Read the Article 1 7 Activity MD/PA Activity DO
Pure Red Cell Aplasia Pure red cell aplasia (PRCA) is a rare disorder which designates anemia secondary to failure of erythropoiesis. It is characterized by normocytic, nor ... Read the Article 1 5 Activity MD/PA Activity DO
Pyruvate Kinase Deficiency Pyruvate kinase deficiency (PKD) is the most common enzyme-related glycolytic defect that results in red cell hemolysis. Invariably, PKD results in he ... Read the Article 1 9 Activity MD/PA Activity DO
Radial Dysplasia Radial club hand encompasses a spectrum of complex congenital malformations of the radial side of the forearm. These are uncommon and can range from a ... Read the Article 0.75 6 Activity MD/PA Activity DO
Rectal Prolapse Rectal prolapse refers specifically to prolapse of some or all of the rectal mucosa through the external anal sphincter. In pediatric populations aged ... Read the Article 0.75 5 Activity MD/PA Activity DO
Refsum Disease Refsum disease is a rare autosomal recessive disease from the peroxisomal biogenesis spectrum of disorders. Peroxisomes are multiple membrane-bound in ... Read the Article 1 6 Activity MD/PA Activity DO
Renal Cancer Renal cell carcinoma (RCC) is the most common malignant tumor of the kidney and constitutes over 90 percent of all renal malignancies. RCC may be spor ... Read the Article 1 8 Activity MD/PA Activity DO
Renal Cell Cancer Renal cell carcinomas (RCCs), which originate within the renal cortex, are responsible for 80% to 85% of all primary renal neoplasms. Transitional cel ... Read the Article 1 9 Activity MD/PA Activity DO
Renal Cyst Renal cysts are the most common lesion of the kidney and are seen in approximately 40 percent of patients that undergo imaging studies involving the a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Renal Oncocytoma Renal oncocytomas are common benign kidney neoplasms that account for 3 to 7 percent of renal neoplasms. They usually occur in adults, most frequently ... Read the Article 0.75 5 Activity MD/PA Activity DO
Restrictive Cardiomyopathy Restrictive cardiomyopathy (RCM) is characterized by diastolic dysfunction of a non-dilated ventricle. Multiple types of restrictive cardiomyopathies ... Read the Article 1 10 Activity MD/PA Activity DO
Retinal Detachment Retinal detachments constitute a serious ocular condition and can lead to permanent vision loss. When the retina, the neurosensory layer, detaches fro ... Read the Article 1.25 16 Activity MD/PA Activity DO
Retinoblastoma Retinoblastoma is the most common primary intraocular malignancy of childhood. Patients management is best in consultation with an experienced ophthal ... Read the Article 1 7 Activity MD/PA Activity DO
Retrognathia Retrognathia is a term used to describe a mandible that is posterior to and behind where it should be when viewed from a lateral vantage point. Retrog ... Read the Article 0.75 4 Activity MD/PA Activity DO
Rett Syndrome Rett syndrome (RTT) is a neurodevelopmental disorder that should be considered in a child who demonstrates regression in previously acquired skills af ... Read the Article 1 11 Activity MD/PA Activity DO
Rickets Rickets is a condition characterized by a defect in mineralization of the epiphyseal plates. Rickets could be inherited or acquired. The acquired rick ... Read the Article 1.25 11 Activity MD/PA Activity DO
Right Aortic Arches Right aortic arch anomalies occur in approximately 0.01 to 0.1 percent of the general population. In general, these anomalies do not directly cause an ... Read the Article 1 9 Activity MD/PA Activity DO
Rinne Test The Rinne test differentiates sound transmission via air conduction from sound transmission via bone conduction. It can serve as a quick screen for co ... Read the Article 0.75 6 Activity MD/PA Activity DO
Rotor Syndrome Rotors syndrome, also known as Rotor type hyperbilirubinemia, is an autosomal recessive disease and a rare cause of mixed direct (conjugated) and indi ... Read the Article 1 7 Activity MD/PA Activity DO
Schizencephaly Schizencephaly is a rare congenital neuronal migration disorder characterized by cleft lined by the heterotopic gray matter, which connects the surfac ... Read the Article 1 7 Activity MD/PA Activity DO
Sebaceous Gland Carcinoma Sebaceous carcinomas are rare malignant tumors of the sebaceous glands. They most commonly develop on the eyelid, but may arise from anywhere sebaceou ... Read the Article 0.75 5 Activity MD/PA Activity DO
Sertoli-Cell-Only Syndrome Sertoli cell-only syndrome, also known as del Castillo syndrome or germ cell aplasia, typically occurs in males between the age of 20 and 40. In this ... Read the Article 0.75 5 Activity MD/PA Activity DO
Short Stature Short stature is defined as a condition in which the height of an individual is in the 3rd percentile for the mean height of a given age, sex, and pop ... Read the Article 0.75 5 Activity MD/PA Activity DO
Shwachman-Diamond Syndrome Schwachman-Diamond syndrome (SDS) is an autosomal recessive disorder that is the second most common cause of exocrine pancreatic insufficiency after c ... Read the Article 0.75 4 Activity MD/PA Activity DO
Sickle Cell Disease Sickle cell disease (SCD) is a multisystem disorder and the most common genetic disease in the United States, affecting 1 in 500 African Americans. Ab ... Read the Article 1 9 Activity MD/PA Activity DO
Sickle Cell Trait Sickle cell trait (SCT) is a benign condition in which the affected individual has only one abnormal hemoglobin beta gene allele. This is in contrast ... Read the Article 0.75 6 Activity MD/PA Activity DO
Single Ventricle A single ventricle is an uncommon occurrence in embryogenesis, which results in the anatomical or functional loss of a ventricular cavity. These malfo ... Read the Article 0.75 5 Activity MD/PA Activity DO
Small Cell Lung Cancer Lung cancer is the second most diagnosed cancer in the United States. It is the leading cause of cancer death in both men and women, accounting for ap ... Read the Article 1 8 Activity MD/PA Activity DO
Sodium Nitroprusside Sodium nitroprusside is a medication used in the management of acute hypertension. It is a potent vasodilator and is administered as an IV infusion wi ... Read the Article 1.25 15 Activity MD/PA Activity DO
Sodium Oxybate Sodium oxybate is a medication used in the management and treatment of narcolepsy with cataplexy or excessive daytime sleepiness. It is a Central Nerv ... Read the Article 0.75 6 Activity MD/PA Activity DO
Somnambulism Somnambulism, also known as sleepwalking, includes undesirable actions such as walking, that occur during abrupt but limited arousals from non-rapid e ... Read the Article 0.75 6 Activity MD/PA Activity DO
Spina Bifida Spina Bifida is a generalized term for the neurologic condition resulting from the failure of neural tube closure of varying degrees during fetal deve ... Read the Article 1.25 14 Activity MD/PA Activity DO
Spinal Muscle Atrophy Spinal muscular atrophy is an inherited autosomal recessive disease of a varying phenotype that is characterized by progressive muscle weakness, reduc ... Read the Article 1 6 Activity MD/PA Activity DO
Spinocerebellar Ataxia Ataxia is the absence of voluntary muscle coordination and loss control of movement that affects gait stability, eye movement, and speech. Spinocerebe ... Read the Article 1 6 Activity MD/PA Activity DO
Splenic Sequestration Crisis Young children with sickle cell anemia are at risk for acute splenic sequestration crises. These occur when an excessive amount of blood becomes trapp ... Read the Article 0.75 6 Activity MD/PA Activity DO
Sports Physicals This activity covering the “sports physical,” otherwise referred to as “preparticipation physical evaluation,” will discuss the purpose of the sports ... Read the Article 0.75 5 Activity MD/PA Activity DO
Steatorrhea The management of steatorrhea is complex and new approaches have been introduced. To achieve satisfactory outcomes, the basic and clinical aspects of ... Read the Article 1 6 Activity MD/PA Activity DO
Stentless Autograft/Homograft Aortic Valve Replacement Aortic valve replacement is indicated when aortic stenosis or regurgitation disturbs the flow of blood out of the heart. Homograft valve and pulmonary ... Read the Article 0.75 6 Activity MD/PA Activity DO
Stevens Johnson Syndrome Stevens-Johnson syndrome and toxic epidermal necrolysis are acute, rare and potentially fatal skin reactions involving loss of skin and in some cases ... Read the Article 1.25 15 Activity MD/PA Activity DO
Stewart-Treves Syndrome Stewart-Treves syndrome is a condition of development of lymphangiosarcoma as a complication of chronic, long-standing lymphedema. Although the majori ... Read the Article 0.75 4 Activity MD/PA Activity DO
Sturge-Weber Syndrome Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis, is a neurocutaneous disorder characterized by angiomas involving the face, chor ... Read the Article 1.25 13 Activity MD/PA Activity DO
Subacute Necrotizing Encephalomyelopathy Subacute necrotizing encephalomyelopathy (SNE) is primarily a disease of childhood that affects the central nervous system. This is a rare condition t ... Read the Article 1 12 Activity MD/PA Activity DO
Succinic Semialdehyde Dehydrogenase Deficiency Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive-inherited inborn error of metabolism with rare occurrence. Although i ... Read the Article 0.75 6 Activity MD/PA Activity DO
Sudden Cardiac Death Sudden cardiac death (SCD) is death due to a cardiovascular cause that occurs within one hour of the onset of symptoms. A sudden cardiac arrest occurs ... Read the Article 0.75 6 Activity MD/PA Activity DO
Sudden Infant Death Syndrome Sudden infant death syndrome (SIDS) is the abrupt and unexplained death of an infant less than 1-year old. Despite a thorough investigation (a careful ... Read the Article 1 10 Activity MD/PA Activity DO
Supravalvar Aortic Stenosis Supravalvular aortic stenosis (SVAS) is a congenital heart defect that accounts for 8 to 14 percent of all cases of congenital aortic stenosis. It inv ... Read the Article 0.75 4 Activity MD/PA Activity DO
Syndactyly Syndactyly is one of the most common congenital anomalies of the extremities. It is a failure of differentiation of the digits, defined as a fusion of ... Read the Article 0.75 5 Activity MD/PA Activity DO
Syndromic Sensorineural Hearing Loss Congenital hearing loss affects 1 to 3 per 1000 newborns. For many children born with hearing loss, it is an isolated finding known as a non-syndromic ... Read the Article 0.75 5 Activity MD/PA Activity DO
Syringomyelia Syringomyelia is a neurologic condition caused by the presence of a fluid-filled cavity within the spinal cord parenchyma or central canal. It typical ... Read the Article 1 8 Activity MD/PA Activity DO
T Cell Prolymphocytic Leukemia T-PLL (T Prolymphocytic leukemia) is mature and aggressive T-cell leukemias characterized by the proliferation of small to medium-sized prolymphocytes ... Read the Article 0.75 5 Activity MD/PA Activity DO
Tangier Disease Tangier disease occurs due to the accumulation of cholesterol esters within a body organ. This activity outlines the evaluation and management of it a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Thalassemia Thalassemia is a heterogeneous group of blood disorders affecting the hemoglobin genes and resulting in ineffective erythropoiesis. The decreased prod ... Read the Article 1 9 Activity MD/PA Activity DO
Thoracic Aorta Aneurysm Thoracic aortic aneurysms require a prompt diagnosis as most patients are asymptomatic until dissection or rupture of the aorta occurs, leading to wor ... Read the Article 1 11 Activity MD/PA Activity DO
Thrombin Thrombin is a topical hemostatic agent used to control and minimize blood loss during surgical procedures, is utilized in conjunction or as an alterna ... Read the Article 1 7 Activity MD/PA Activity DO
Thrombocytopenia Thrombocytopenia is a platelet count below the lower limit of normal, i.e., 150000/microliter (for adults). This activity reviews the etiology, evalua ... Read the Article 1.25 15 Activity MD/PA Activity DO
Thyroxine-Binding Globulin Deficiency Thyroxine-binding globulin deficiency is a disorder that can often be misdiagnosed based on an inaccurate interpretation of thyroid hormone labs; this ... Read the Article 0.75 6 Activity MD/PA Activity DO
Tracheal Cancer Primary tracheal neoplasms are very uncommon but are usually malignant in adults and benign in children. They present with symptoms that mimic other c ... Read the Article 0.75 4 Activity MD/PA Activity DO
Transposition Of The Great Arteries Transposition of the great arteries (TGA) is a congenital pediatric cardiac defect arising from an embryological discordance between the aorta and pul ... Read the Article 1 11 Activity MD/PA Activity DO
Treadmill Stress Testing Exercise testing is a form of cardiovascular stress testing that typically utilizes electrocardiography along with blood pressure monitoring and exerc ... Read the Article 1 12 Activity MD/PA Activity DO
Trinucleotide Repeat Disorders Trinucleotide repeat disorders are neuropsychiatric disorders caused due to abnormal trinucleotide repeat expansions. Accurate diagnosis, with knowled ... Read the Article 1 5 Activity MD/PA Activity DO
Trisomy 13 Trisomy 13 is a chromosomal aneuploidy characterized by meiotic nondisjunction. The phenotypic holoprosencephaly and midline fusion aberrancies are re ... Read the Article 0.75 6 Activity MD/PA Activity DO
Truncus Arteriosus Persistent truncus arteriosus (TA) is a rare, congenital, cyanotic heart defect characterized by a ventricular septal defect (VSD), a single truncal v ... Read the Article 1 8 Activity MD/PA Activity DO
Tuberous Sclerosis Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple systems. It is inherited in an autosomal dominant fashion and is characte ... Read the Article 2 34 Activity MD/PA Activity DO
Tubular Adenoma Colonic adenomas are raised protrusions of colonic mucosa, i.e., polyps formed by glandular tissue. Although a tumor of benign nature, these adenomas ... Read the Article 1 7 Activity MD/PA Activity DO
Turcot Syndrome Turcot syndrome is the association of primary brain tumors with colorectal cancer. Hereditary non-polyposis colorectal cancer (HNPCC) and familial ade ... Read the Article 1 7 Activity MD/PA Activity DO
Turner Syndrome Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. It result ... Read the Article 1.25 15 Activity MD/PA Activity DO
Unconjugated Hyperbilirubinemia Unconjugated hyperbilirubinemia is a condition defined as elevated serum or plasma bilirubin (unconjugated) levels above the reference range of the la ... Read the Article 1 8 Activity MD/PA Activity DO
Urea Cycle Disorders Urea cycle disorders are inborn errors of metabolism resulting from defects in one of the enzymes or transporter molecules involved in the hepatic rem ... Read the Article 1 8 Activity MD/PA Activity DO
Vaginal Cancer Vaginal cancer is an uncommon gynecologic malignancy. The diagnosis of primary vaginal cancer is rare because most of these lesions will be metastatic ... Read the Article 0.75 5 Activity MD/PA Activity DO
Vascular Ring Double Aortic Arch The term "vascular ring" refers to the vascular structures that encircle and compress the trachea and esophagus causing respiratory and gastrointestin ... Read the Article 1 7 Activity MD/PA Activity DO
Velocardiofacial Syndrome Velocardiofacial syndrome, also known as Di George syndrome or chromosome 22q11.2 syndrome, is the most common microdeletion syndrome in humans. Thoug ... Read the Article 0.75 4 Activity MD/PA Activity DO
Vismodegib Initially approved in 2012, vismodegib is the first FDA-approved pharmacologic agent that targets the Hedgehog signaling pathway (sonic hedgehog, SHH) ... Read the Article 0.75 5 Activity MD/PA Activity DO
Vitamin B5 (Pantothenic Acid) Vitamin B5 is a medication used in the management and treatment of nutrient deficiencies. It is in the dietary supplement class of medications. This a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Vitamin C Deficiency Vitamin C deficiency, also known as scurvy, is a disease primarily associated with socioeconomic status and access to food. Signs and symptoms are oft ... Read the Article 1.25 16 Activity MD/PA Activity DO
Vohwinkel Syndrome Vohwinkel syndrome, also known as keratoderma hereditarian mutilans, is classified as a type of hereditary palmoplantar keratoderma (PPK). Classicall ... Read the Article 0.75 3 Activity MD/PA Activity DO
Von Hippel Lindau Syndrome Von Hippel-Lindau (VHL) syndrome is an autosomal dominant disease affecting several organ systems. The disease is characterized by the growth of cysts ... Read the Article 1 7 Activity MD/PA Activity DO
Waardenburg Syndrome Waardenburg syndrome is a group of genetic conditions inherited in an autosomal dominant fashion. During embryogenesis, there is an abnormal distribut ... Read the Article 0.75 6 Activity MD/PA Activity DO
Werdnig Hoffmann Disease Werdnig-Hoffmann disease is a type of spinal muscular atrophy (SMA). It is the most common type of SMA and accounts for about 80% of individuals with ... Read the Article 0.75 5 Activity MD/PA Activity DO
White Dot Syndromes The white dot syndromes constitute a group of inflammatory chorioretinopathies in which the common defining clinical feature is the presence of multip ... Read the Article 0.75 5 Activity MD/PA Activity DO
Williams Syndrome WS is a rare genetic disorder that presents with congenital heart disease, distinctive facial features (elfin-like faces), hypercalcemia, neurodevelop ... Read the Article 0.75 6 Activity MD/PA Activity DO
Wilms Tumor Wilms tumor, or nephroblastoma, is the most common pediatric renal cancer, the most common pediatric abdominal cancer, and the fourth most common pedi ... Read the Article 1.25 15 Activity MD/PA Activity DO
Wilson Disease Wilson disease (hepatolenticular degeneration) is a rare, autosomal recessive disorder caused by abnormal copper accumulation in the body particularly ... Read the Article 1.75 27 Activity MD/PA Activity DO
Wiskott-Aldrich Syndrome Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder which classically includes the characteristic triad of immunodeficiency, thrombocytopenia, ... Read the Article 1.25 13 Activity MD/PA Activity DO
Xeroderma Pigmentosum Xeroderma pigmentosum is a rare autosomal recessive genodermatosis that results due to mutations in nucleotide excision repair. The condition is chara ... Read the Article 0.75 4 Activity MD/PA Activity DO
X-Linked Immunodeficiency Primary immunodeficiencies (PID) are a heterogeneous group of diseases, mostly inherited, caused by more than 400 intrinsic disorders of the immune sy ... Read the Article 1 7 Activity MD/PA Activity DO
Young Syndrome Young syndrome, also known as sinusitis-infertility syndrome, is a rare inherited syndrome similar to Kartagener syndrome. Individuals born with this ... Read the Article 0.75 6 Activity MD/PA Activity DO
Zellweger Syndrome Zellweger syndrome, also known as cerebrohepatorenal syndrome, is a rare inherited disorder characterized by the absence or reduction of functional pe ... Read the Article 0.75 5 Activity MD/PA Activity DO
Zinc Deficiency Zinc deficiency is common worldwide but is seen with greater frequency in developing countries. Zinc deficiency can be inherited or acquired, and typi ... Read the Article 1 7 Activity MD/PA Activity DO

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