Congenital bowing of long bones means a baby is born with one or more arm or leg bones that curve more than usual. It is not one single disease. It is a sign ...

Cerulean cataract is a rare kind of childhood or developmental cataract. A cataract means the natural lens of the eye becomes cloudy instead of staying clear. ...

Congenital blue dot cataract, also called cerulean cataract, is a type of childhood lens opacity in which many tiny bluish or whitish dots appear in the lens, ...

Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome is a very rare inherited metabolic disease. It is also called alpha-methylacyl-CoA racemase ...

Intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid is a very rare inherited bile acid synthesis disorder. It is ...

Alpha-methyl-acyl-CoA racemase deficiency, often shortened to AMACR deficiency, is a very rare inherited metabolic disease. It happens when the body cannot ...

2-methylacyl-CoA racemase deficiency is a very rare inherited metabolic disease. It happens when the body does not make enough working AMACR enzyme. This ...

Congenital bile acid synthesis defect 4, also called CBAS4 or AMACR deficiency, is a very rare inherited disorder caused by harmful changes in the AMACR gene. ...

CYP7B1 oxysterol 7-alpha-hydroxylase deficiency is a very rare inherited disease. It happens when both copies of the CYP7B1 gene do not work properly. This ...

Congenital bile acid synthesis defect caused by mutation in CYP7B1 is a very rare inherited liver disease. Its best known medical name is congenital bile acid ...

Congenital bile acid synthesis defect 3, also called CBAS3 or oxysterol 7 alpha-hydroxylase deficiency, is a very rare inherited liver disease caused by ...

Congenital bile acid synthesis defect caused by mutation in AKR1D1 is also called congenital bile acid synthesis defect type 2, CBAS2, or delta-4-3-oxosteroid ...

AKR1D1 congenital bile acid synthesis defect is a very rare inherited liver and metabolism disease. Its usual formal name is congenital bile acid synthesis ...

Congenital bile acid synthesis defect 2 is a very rare inherited liver disease. It happens when the body cannot make normal bile acids in the right way. Bile ...

Congenital bile acid synthesis defect caused by mutation in HSD3B7 is a rare inherited liver and metabolism disease. It is also called congenital bile acid ...

3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency type 1 is a very rare inherited disease of bile acid making. It happens when the body cannot ...

3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency is a very rare inherited liver disease. It is one of the bile acid synthesis disorders. In this ...

Congenital bile acid synthesis defect 1 is a rare inherited liver disease. It happens when the body cannot make normal bile acids in the right way. Bile acids ...

Perisylvian syndrome usually means congenital bilateral perisylvian syndrome, a rare brain development disorder. In this condition, the outer part of the brain ...

Bilateral perisylvian polymicrogyria is a brain development problem that starts before birth. In this condition, the brain area around the Sylvian fissures on ...