21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is a genetic disease that affects how the adrenal glands make important hormones called cortisol ...

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a genetic disease that affects the adrenal glands, which are small organs that ...

Autosomal dominant intellectual disability 49 is a very rare genetic brain-development problem. It is also called Clark-Baraitser syndrome and is caused by a ...

Clark-Baraitser syndrome (often shortened to CLABARS) is a very rare genetic condition that affects how a child’s brain, body growth, and face develop. ...

Asymmetry of the face and limbs with overgrowth means that one side of the body, or one part such as an arm, leg or part of the face, grows larger than the ...

A lymphatic malformation of the face and neck is a soft, spongy swelling made from lymph vessels that grew in an abnormal way before birth. These vessels form ...

Capillary malformation of the lower lip is a birthmark made from many tiny blood vessels (capillaries) just under the skin of the lower lip. Doctors often call ...

CLAPO syndrome is a very rare health condition that mostly affects the skin, blood vessels, lymph vessels, and the growth of some body parts. The name “CLAPO” ...

X-linked intellectual disability–microcephaly–cortical malformation–thin habitus syndrome is a very rare genetic disease that mainly affects boys. Doctors also ...

CK syndrome is a very rare genetic brain and body disorder that mainly affects boys and starts in early life. It is an X-linked recessive condition, which ...

Adult-onset citrin deficiency is a rare, lifelong genetic disease that mainly affects the liver and the brain. In this condition, a gene called SLC25A13 does ...

Citrullinemia type II is a rare inherited disease in which the liver cannot use a substance called citrin properly, so ammonia and some amino acids build up in ...

Argininosuccinate synthetase deficiency (ASS1 deficiency) is a rare, inherited disease of the urea cycle. The urea cycle is the process in the liver that ...

Argininosuccinate synthase 1–gene related citrullinemia type I is a rare, serious genetic disease of the urea cycle. In this disease the ASS1 gene does not ...

Citrullinemia type I is a rare inherited disease of the urea cycle, which is the process in the liver that removes extra nitrogen from the body. In this ...

Dystonia-parkinsonism-hypermanganesemia-polycythemia and chronic liver disease is a very rare inherited disease. In this condition, a gene called SLC30A10 does ...

Cirrhosis–dystonia–polycythemia–hypermanganesemia syndrome is a very rare genetic disease where the body cannot properly remove extra manganese, a metal that ...

Ciliary dyskinesia with transposition of ciliary microtubules is a rare genetic problem that affects tiny hair-like structures in the body called cilia. Cilia ...

Familial partial lipodystrophy type 5 (FPLD5) is a very rare genetic disease where fat under the skin (subcutaneous fat) is lost from some parts of the body ...

Cell death-inducing DFFA-like effector C–related familial partial lipodystrophy (CIDEC-related FPLD) is a very rare inherited disease where a change (mutation) ...