Cocoon syndrome usually means abdominal cocoon syndrome, also called sclerosing encapsulating peritonitis or encapsulating peritoneal sclerosis. In this ...

Joubert syndrome with hepatic defect is a very rare, genetic disease. It mainly affects the brain and the liver. In this condition, the part of the brain ...

Joubert syndrome with congenital hepatic fibrosis is a rare genetic condition that affects both the brain and the liver at the same time. In this condition, ...

Chylomicron retention disease is a very rare inherited disease where the small intestine cannot release fat particles (called chylomicrons) into the blood ...

Familial polyposis coli is a rare inherited disease of the large intestine (colon) and rectum. In this disease, hundreds or even thousands of small growths ...

Familial multiple polyposis syndrome is another name for familial adenomatous polyposis (FAP). It is a rare, inherited disease where a person grows many small ...

Familial intestinal polyposis usually means a condition called familial adenomatous polyposis (FAP). It is an inherited disease where hundreds to thousands of ...

Chyloperitoneum means that lymph fluid called chyle leaks into the space inside the belly (the peritoneal cavity). This chyle is milky and rich in fat ...

Chylous ascites is a rare type of fluid build-up in the belly (abdomen). In this condition, a milky fluid called chyle leaks into the space around the ...

Chronic intestinal pseudo-obstruction (CIPO) is a rare long-term disease where the intestine looks and behaves like it is blocked, but doctors cannot find any ...

Kernicterus spectrum disorder is part of a group of problems caused by very high levels of bilirubin hurting a baby’s brain. Doctors and researchers use ...

Bilirubin-induced neurological dysfunction (BIND) is brain damage that happens when a baby has very high levels of a yellow substance in the blood called ...

Chondrodysplasia punctata, Conradi-Hünermann type, is a rare genetic disease that mainly affects bones, skin, and eyes. It belongs to a group of bone growth ...

Cholesteryl ester storage disease (CESD) is a rare inherited disease where the body cannot break down certain fats properly, especially cholesteryl esters and ...

Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a rare inherited liver disease where bile cannot flow out of the liver properly because of a ...

Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a rare inherited liver disease where bile cannot flow out of the liver properly because of a ...

Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a rare inherited liver disease where the liver cells cannot move bile out of the liver in a ...

Cholestasis-pigmentary retinopathy-cleft palate syndrome is a very rare condition that is present from birth and affects many parts of the body at the same ...

Norwegian cholestasis is an old name for a very rare genetic disease now usually called Aagenaes syndrome or cholestasis-lymphedema (lymphedema) syndrome. It ...

Cholestatic jaundice with hereditary lymphedema is a very rare inherited disease in which two main problems happen together: long-lasting or repeated blockage ...