Congenital Atresia of Colon
Congenital atresia of colon means a baby is born with a part of the large intestine, also called the colon, closed, blocked, missing inside, or not joined in a normal way. Because stool, gas, and ...
Gastrointestinal, Pelvic & Liver Disease, (A – Z)
Primary Chronic Pseudo-Obstruction of the Colon
Primary chronic pseudo-obstruction of the colon is a long-lasting disease where the large bowel (colon) behaves as if it is blocked, but no real physical blockage is found. Doctors see big, swollen ...
Colonic Pseudo-Obstruction
Colonic pseudo-obstruction is a problem where the large intestine (colon) becomes very big and full, like there is a blockage, but doctors cannot find any physical thing blocking it. The bowel looks ...
Cocoon Syndrome
Cocoon syndrome usually means abdominal cocoon syndrome, also called sclerosing encapsulating peritonitis or encapsulating peritoneal sclerosis. In this condition a thick fibrous membrane grows ...
Joubert Syndrome with Hepatic Defect
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 called the cerebellar vermis and nearby ...
Joubert Syndrome with Congenital Hepatic Fibrosis
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, the back part of the brain (called the ...
Inherited Chylomicron Retention Disease
Chylomicron retention disease is a very rare inherited disease where the small intestine cannot release fat particles (called chylomicrons) into the blood after you eat. Because these fat particles ...
Familial Polyposis Coli
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 called “adenomatous polyps” slowly appear ...
Familial Multiple Polyposis Syndrome
Familial multiple polyposis syndrome is another name for familial adenomatous polyposis (FAP). It is a rare, inherited disease where a person grows many small lumps called polyps on the inside lining ...
Familial Intestinal Polyposis
Familial intestinal polyposis usually means a condition called familial adenomatous polyposis (FAP). It is an inherited disease where hundreds to thousands of small growths (polyps) form in the large ...
Chyloperitoneum (Chylous Ascites)
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 (triglycerides) and proteins. It builds up as a ...
Chylous Ascites
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 intestines. Chyle is lymph fluid that is rich in ...
Chronic Intestinal Pseudo-Obstruction (CIPO)
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 real physical blockage such as a tumor, ...
Kernicterus Spectrum Disorder
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 several other names that describe parts of the ...
Bilirubin-Induced Neurological Dysfunction (BIND)
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 unconjugated bilirubin for too long. This ...
Chondrodysplasia Punctata, Conradi-Hünermann Type
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 problems called “chondrodysplasia ...
Cholesteryl Ester Storage Disease (CESD)
Cholesteryl ester storage disease (CESD) is a rare inherited disease where the body cannot break down certain fats properly, especially cholesteryl esters and triglycerides. These fats slowly build ...
Progressive Familial Intrahepatic Cholestasis Type 4 (PFIC4)
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 problem in a tight-junction protein called ...
Progressive Familial Intrahepatic Cholestasis Type 4 (PFIC4)
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 problem in a tight-junction protein called ...
Progressive Familial Intrahepatic Cholestasis Type 4 (PFIC4)
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 normal way. Bile then builds up inside the ...
