An aldosterone-producing adenoma (APA) is a small, benign (non-cancer) tumor in one adrenal gland that makes too much aldosterone. Aldosterone is a hormone ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Ziprkowski–Margolis syndrome is an extremely rare inherited condition. It causes congenital (from birth) sensorineural hearing loss and patchy skin ...
Wolff–Parkinson–White (WPW) syndrome is a heart problem that you are usually born with. Inside the heart there is an extra “wire” (an accessory pathway) that ...
Albinism–hearing loss syndrome is a rare, inherited condition. A baby is born with very light skin and hair and has permanent hearing loss from birth. The most ...
Alagille–Watson syndrome is a rare genetic condition that affects how several organs develop and work—especially the liver, heart, blood vessels, eyes, bones, ...
Alagille syndrome is a rare genetic condition that affects many body systems. The most common problem is in the liver, where there are too few small bile ducts ...
Al-Gazali syndrome is a very rare, inherited condition. Babies are small before birth and after birth. Many joints are stuck in bent positions (joint ...
Al-Gazali–Khidr–Prem Chandran syndrome (also called cherubism with optic atrophy and short stature). This is an extremely rare condition where a child has ...
Light-chain amyloidosis—often shortened to AL amyloidosis—is a disease where abnormal proteins called light chains are made by a small group of blood cells ...
AL amyloidosis is a disease where certain white blood cells in the bone marrow (called plasma cells) make abnormal light-chain proteins. These light chains ...
AKT2-related familial partial lipodystrophy is a rare inherited condition in which the body loses normal fat from some areas (usually the limbs) and keeps or ...
“Encephalopathy” means a problem with brain function. “Intracranial calcification” means tiny calcium deposits inside the brain. Put together, encephalopathy ...
Cree encephalitis is a genetic disorder that causes long-lasting inflammation in the brain and its white matter. It usually starts in infancy or early ...
Aicardi-Goutières syndrome is a rare genetic disease. It mainly affects the brain, immune system, and skin. Babies or young children develop brain inflammation ...
Agenesis of the corpus callosum with chorioretinal abnormality is a rare neuro-eye disorder that begins before birth. The main brain bridge (the corpus ...
Aicardi syndrome is a rare brain and eye development disorder that almost always affects baby girls. Doctors first look for a “classic triad”: 1) the corpus ...
ATIC deficiency is a very rare, inherited metabolic disease. It happens when both copies of the ATIC gene do not work properly. The ATIC gene makes a single ...
5-amino-4-imidazole carboxamide ribosiduria is an ultra-rare, inherited metabolic disease that affects how the body makes purines, the building blocks of DNA, ...
AICA-ribosiduria is an ultra-rare genetic disease. It happens when a gene called ATIC does not work properly. ATIC makes a single protein that does two final ...
“Dysmorphism syndrome” is a broad medical term doctors use when a person has a pattern of body or facial features that look different from what is common in ...
