Isolated Congenital Elbow Dislocation
Isolated congenital elbow dislocation is a very rare condition present from birth. In most medical papers, the more exact name is congenital radial head dislocation, because the bone that is usually ...
Gastrointestinal, Pelvic & Liver Disease, (A – Z)
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome is a very rare inherited disease. It is now usually called NGLY1 deficiency or NGLY1-related congenital disorder of deglycosylation. In this ...
Congenital Diarrhea Caused by Mutation in DGAT1
Congenital diarrhea caused by mutation in DGAT1 is a very rare inherited disease. It usually starts in the newborn period or in early infancy. The baby cannot handle fat in the normal way inside the ...
Congenital Chronic Diarrhea with Protein-Losing Enteropathy
Congenital chronic diarrhea with protein-losing enteropathy is not usually one single disease name. It is a clinical description for a baby or young child who has diarrhea that starts very early in ...
Congenital Chronic Diarrhea with Exudative Enteropathy
Congenital chronic diarrhea with exudative enteropathy is a rare inherited early-life intestinal disease in which the gut does not handle nutrients, fluids, and proteins normally, so the child ...
Congenital Diarrhea 7 with Exudative Enteropathy
Congenital diarrhea 7 with exudative enteropathy is a very rare inherited intestinal disease. It usually starts in the newborn period or early infancy. The baby has chronic watery diarrhea, loses ...
Chronic Infantile Diarrhea Due to Guanylate Cyclase 2C Overactivity
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity is a very rare inherited bowel disease. It usually starts very early in life, often in infancy, and causes long-lasting watery ...
Tufting Enteropathy
Tufting enteropathy is a very rare inherited bowel disease. It usually starts in the first days, weeks, or months of life. The baby has severe watery diarrhea that does not stop easily. Because the ...
Secretory Diarrhea Caused by Mutation in EPCAM
Secretory diarrhea caused by mutation in EPCAM is usually called congenital tufting enteropathy or intestinal epithelial dysplasia. It is a very rare inherited disease that starts in early infancy. ...
Intestinal Epithelial Dysplasia
Intestinal epithelial dysplasia, also called tufting enteropathy or congenital tufting enteropathy, is a very rare inherited disease of the gut lining. In this condition, the cells on the inside ...
EPCAM Secretory Diarrhea
EPCAM secretory diarrhea usually means congenital tufting enteropathy caused by harmful changes in the EPCAM gene. This is a very rare inherited intestinal disease that starts in the newborn period ...
Congenital Tufting Enteropathy
Congenital tufting enteropathy, also called CTE, is a very rare inherited intestinal disease that usually starts in the first days or weeks of life. The bowel lining is abnormal, so the intestine ...
Congenital Familial Intractable Diarrhea with Epithelial or Epithelium Abnormalities
Congenital familial intractable diarrhea with epithelial or epithelium abnormalities is now most often called congenital tufting enteropathy (CTE) or intestinal epithelial dysplasia (IED). It is a ...
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, often called CDH, is a birth defect that happens when the diaphragm does not form in the usual way before birth. The diaphragm is the thin muscle that separates the ...
Congenital Bile Acid Synthesis Defect 3
Congenital bile acid synthesis defect 3, also called CBAS3 or oxysterol 7 alpha-hydroxylase deficiency, is a very rare inherited liver disease caused by harmful changes in the CYP7B1 gene. This gene ...
3-Beta-Hydroxy-Delta-5-c27-Steroid Oxidoreductase Deficiency Type 1
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 properly do one important step in the normal ...
Congenital Bile Acid Synthesis Defect 1
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 are important because they help bile ...
Large Intestinal Atresia
Large intestinal atresia means a baby is born with a part of the large intestine closed, blocked, missing inside, or completely separated, so stool and gas cannot pass normally. The large intestine ...
Colonic Atresia
Colonic atresia is a rare birth condition in which part of the colon does not form as an open tube, so stool and gas cannot pass normally. A baby is usually born with a blockage in the large bowel, ...
Atresia of the Large Intestine
Atresia of the large intestine means a baby is born with part of the large bowel closed, missing, or not connected in the normal way. The large intestine is also called the colon. Because the bowel ...
