Abruzzo–Erickson syndrome (often shortened to AES) is an extremely rare, inherited condition that affects several parts of the body from birth. The most common ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Familial dementia means dementia that runs in a family. It happens because of changes in genes. These gene changes can be passed from a parent to a child. When ...
Ablepharon-macrostomia syndrome is a very rare genetic condition present from birth. It mainly affects parts of the body that come from the outer layer of the ...
Abdominal cystic lymphangioma is a rare, non-cancerous growth made of abnormal lymphatic vessels that form one or more fluid-filled cysts inside the abdomen. ...
Hydrocephalus-cleft palate-joint contractures syndrome is a very rare birth condition. Babies are born with three main problems: Hydrocephalus. This ...
Aase-Smith syndrome is a rare genetic disorder characterized by a buildup of fluid in the brain (hydrocephalus) due to a brain abnormality called Dandy-Walker ...
Cholestasis-edema syndrome is a rare, inherited condition in which bile cannot flow out of the liver normally (cholestasis) and lasting swelling (lymphedema) ...
AA-amyloidosis is a disease where an abnormal protein called AA (amyloid A) slowly builds up in body tissues and organs. This protein comes from another ...
