Complex Neurodevelopmental Disorder
A complex neurodevelopmental disorder is a long-term condition that starts early in life because the brain develops in a different way. “Neuro” means brain and nerves. “Developmental” means it shows ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Aldosterone Producing Adenoma with Seizures and Neurological Abnormalities
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 that tells the kidneys to hold on to salt ...
Ziprkowski–Margolis Syndrome
Ziprkowski–Margolis syndrome is an extremely rare inherited condition. It causes congenital (from birth) sensorineural hearing loss and patchy skin depigmentation that looks like piebaldism (large, ...
Wolff–Parkinson–White (WPW) Syndrome
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 lets electrical signals skip the normal ...
Albinism–Hearing Loss Syndrome
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 classic form is called Tietz syndrome. ...
Alagille–Watson Syndrome
Alagille–Watson syndrome is a rare genetic condition that affects how several organs develop and work—especially the liver, heart, blood vessels, eyes, bones, and kidneys. The main liver problem is a ...
Alagille Syndrome
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 inside the liver. This is called ...
Al-Gazali Syndrome
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 contractures), the fingers may be bent ...
Al-Gazali–Khidr–Prem Chandran Syndrome
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 three main things together: (1) cherubism ...
Light-Chain Amyloidosis
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 (plasma cells or some B-cells). These light ...
AL Amyloidosis
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 fold the wrong way. The body cannot clear ...
AKT2 Related Familial Partial Lipodystrophy
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 gains fat in other places. Because ...
Encephalopathy with Intracranial Calcification
“Encephalopathy” means a problem with brain function. “Intracranial calcification” means tiny calcium deposits inside the brain. Put together, encephalopathy with intracranial calcification means the ...
Cree Encephalitis
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 childhood. The body’s antiviral alarm system ...
Aicardi-Goutières Syndrome (AGS)
Aicardi-Goutières syndrome is a rare genetic disease. It mainly affects the brain, immune system, and skin. Babies or young children develop brain inflammation that looks like a congenital viral ...
Agenesis of Corpus Callosum with Chorioretinal Abnormality
Agenesis of the corpus callosum with chorioretinal abnormality is a rare neuro-eye disorder that begins before birth. The main brain bridge (the corpus callosum) does not form fully or is missing. ...
Aicardi Syndrome
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 callosum is partly or completely missing ...
ATIC Deficiency
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 enzyme that does two final steps in the ...
5-Amino-4-Imidazole Carboxamide Ribosiduria (AICA-Ribosiduria)
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, RNA, and energy molecules. The problem ...
AICA-Ribosiduria
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 steps in the body’s new-making of purines ...
