Anotia
Anotia Definition It is an extremely rare congenital defect, meaning it is present at birth. It is characterized by the complete absence of the external portion of the ear …
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Autonomic Dysreflexia
Autonomic Dysreflexia (AD) is one of the most severe injuries of the spinal cord conditions. Get detailed information about the disease, including its causes, symptoms, preventive methods and treatment …
Atrioventricular Septal Defect
What is Atrioventricular Septal Defect? Atrioventricular septal defect (AVSD), also known as ‘Atrioventricular canal defect,’ is a form of congenital heart disease. It is characterized by a problem with …
Antiphospholipid Syndrome
What is Antiphospholipid Syndrome? Antiphospholipid Syndrome (APS) is an autoimmune disorder characterized by the production of antibodies that mistakenly attack some normal proteins in the blood. The functioning of …
Bronchogenic Cyst
Bronchogenic Cyst Definition These are cysts or sinuses that are small in size and are solitary. They are located in the region of suprasternal notch or over the manubrium. …
Blepharophimosis
Blepharophimosis Definition Blepharophimosis is a condition in which the eyelid suffers from malformation and is characterized by four distinct features – blepharophimosis, ptosis, epicanthus inversus and telecanthus. All of …
Alkaptonuria (Alcaptonuria)
Alkaptonuria Definition Alkaptonuria is a genetic disorder in which the urine of the patient turns black once exposed to air. One of its important characteristic is Ochronosis, a condition …
Laryngocele
Laryngocele Definition Laryngocele refers to a congenital anomalous air sac which communicates with the cavity of the larynx which bulges outward. People who conduct forced expiration exert extreme pressure …
Fuchs Dystrophy
Fuchs Dystrophy Definition Fuchs dystrophy, also known as Fuchs endothelial dystrophy, is a corneal disease that progresses slowly and generally affects both eyes and slightly more common in women …
Bloom Syndrome
Bloom Syndrome Definition It is a rare form of inherited disorder that is also known as ‘Bloom-Torre-Machacek syndrome’. This condition was first described and discovered by the New York …