Achondrogenesis is a very rare genetic bone growth disorder. It starts before birth. In this condition, the baby’s skeleton does not form normally. The bones ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Acheiropody (also called acheiropodia or Horn-Kolb syndrome) is a very rare genetic condition present from birth in which a baby is born without formed hands ...
Congenital absence of the hand means a baby is born without a hand. It happens during early pregnancy when the limb does not form fully. The rest of the arm ...
Acheiria means a person is born without one hand (unilateral) or both hands (bilateral). It is a type of congenital limb reduction where the hand does not form ...
Achalasia–microcephaly is an extremely rare, likely inherited condition in which a child has achalasia (the food pipe does not relax and move food down ...
Achalasia–microcephaly syndrome (AMS) is an extremely rare genetic disorder in which a child has both achalasia (the food pipe does not relax and push food ...
Hypoceruloplasminemia means your blood has less ceruloplasmin than normal. Ceruloplasmin is a copper-carrying enzyme made mainly in the liver. Its most ...
Hereditary ceruloplasmin deficiency is a rare genetic disease. It is passed down in families. A small change in a single gene stops the body from making a ...
Aceruloplasminemia is a very rare, inherited disease. In this disease, the body does not make a working protein called ceruloplasmin. Ceruloplasmin normally ...
An accessory pancreas means there is a small piece of normal pancreatic tissue that sits outside the main pancreas. It grew there during early life in the ...
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 ...
Acalvaria is a very rare birth defect. The baby grows without the flat bones of the skull cap (the “top” of the head). The tough brain covering (dura mater) ...
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 ...
