ALG1-CDG is a rare, inherited condition that affects how the body attaches sugar chains to proteins and fats. This process is called glycosylation. The ALG1 ...

Alexander disease is a rare brain disorder. It belongs to a group of conditions called leukodystrophies. Leukodystrophies damage the white matter of the brain ...

Aleukemic leukemia cutis means leukemia cells have spread to the skin before they are visible in the blood or clearly found in the bone marrow. In other words, ...

Aldosteronism means your body makes too much aldosterone, a salt-controlling hormone from the adrenal glands (small glands that sit on top of each kidney). ...

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 ...

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 ...

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 ...

Alar cartilages hypoplasia–coloboma–telecanthus syndrome is a descriptive label for a birth-difference (a congenital condition) where: the alar ...

Forsius–Eriksson type ocular albinism—today most often referred to as Åland Islands eye disease (AIED). It is an X-linked retinal channelopathy in which ...

Forsius–Eriksson syndrome—also called Åland Islands eye disease (AIED)—is a very rare eye condition present from birth. It mainly affects boys because the gene ...

Åland Islands Eye Disease (AIED), also called Forsius–Eriksson syndrome, is a rare, inherited eye condition that mostly affects boys and men because it is ...

Syndromic bile duct paucity means there are fewer small bile ducts inside the liver than normal, and this shortage occurs as part of a broader syndrome that ...

Arteriohepatic dysplasia—better known as Alagille syndrome (ALGS)—is a rare genetic condition that affects many body systems, mainly the liver and heart. In ...

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 ...

AAID (Alacrima, Achalasia, and Intellectual Disability Syndrome) is a rare, inherited condition. The three core problems are: Alacrima: very low or ...

Alacrima means the eyes do not make enough tears or, in some people, almost no tears at all. Tears are not only “water.” Healthy tears are a balanced mix of ...

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 ...