Aceruloplasminemia is a very rare, inherited disease. In this disease, the body does not make a working protein called ceruloplasmin. Ceruloplasmin normally ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Catalase deficiency means the body does not have enough of an enzyme called catalase. Catalase is a natural “safety” protein inside our cells. Its main job is ...
Acatalasia is a very rare health condition where the body has little or no catalase enzyme. Catalase is an important antioxidant enzyme that lives inside our ...
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic ...
Holmes–Collins syndrome is an extremely rare genetic condition present from birth. Children have a combination of limb differences (most characteristically a ...
Absent tibia–polydactyly–arachnoid cyst syndrome is an extremely rare genetic condition first described in 1995. Babies are born with a combination of problems ...
Absent radius–anogenital anomalies syndrome is a very rare, genetic condition present from birth. The key features are: (1) the radius bone in the forearm is ...
Baird syndrome is a very rare genetic skin condition. Babies are born without the usual lines and ridges on the palms and soles, so they do not have ...
Absence of fingerprints–congenital milia syndrome is a very rare inherited skin condition in which a person is born without the usual ridge patterns on the ...
Cleft palate–coloboma–deafness syndrome is a very rare genetic condition seen at birth. Children have three core findings: a cleft palate (an opening ...
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 ...
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 ...
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 ...
Von Hippel-Lindau (VHL) disease is a rare genetic condition that makes the body grow tumors and fluid-filled cysts in many organs. Most of the tumors are ...
Dr. Gelareh Abedi, MD - Ophthalmologist
Infantile Refsum disease is a rare, inherited disorder of peroxisome formation. Peroxisomes are tiny structures inside cells that process fats and detoxify ...
Dr. Emily Black Davis, MD - Clinical, Biochemical Genetics, and Rare Diseases Specialist
Neonatal adrenoleukodystrophy (NALD) is a rare genetic disorder in newborns caused by a failure in the normal formation and function of peroxisomes—tiny ...
