- Cholestasis with peripheral pulmonary stenosis
- Also known as arteriohepatic dysplasia or Alagille syndrome, this ia a genetic disorder characterized by yellowing of the skin (jaundice) in the newborn period, liver disease with cholestasis, peripheral pulmonic stenosis and unusual face. Children with Alagille syndrome usually present with jaundice (yellowing of the skin and whites of the eyes) in the newborn period. Cholestasis (stagnant flow of bile from the liver) then develops with puritis (itching), stools without the usual yellowing brown color, and enlargement of the liver and spleen. Peripheral pulmonic stenosis is a form of congenital heart disease (CHD). Other types of CHD also occur. The face has deep- set eyes, broad forehead, long nose with flat tip, prominence of the chin, and low-set or malformed ears. The outlook (prognosis) depends upon the degree of severity of the CHD and the liver disease (it can cause liver failure). The condition is an autosomal dominant trait meaning that the gene for it is on a non-sex chromosome (an autosome) and a single edition of the Alagille gene is sufficient to produce the disease. The gene has been discovered on chromosome 20 in band 20p12. The syndrome was first described by D. Alagille in the French medical literature in 1969.
Medical dictionary. 2011.
Look at other dictionaries:
Peripheral pulmonary stenosis with cholestasis — Also known as arteriohepatic dysplasia or Alagille syndrome, this ia a genetic disorder characterized by jaundice in the newborn period, liver disease with cholestasis, peripheral pulmonic stenosis and unusual face. Children with Alagille… … Medical dictionary
Pulmonary stenosis, peripheral, with cholestasis — Also known as arteriohepatic dysplasia or Alagille syndrome, this ia a genetic disorder characterized by jaundice in the newborn period, liver disease with cholestasis, peripheral pulmonic stenosis and unusual face. Children with Alagille… … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… … Medical dictionary
Embolism — For other uses, see Embolism (disambiguation). Not to be confused with aneurysm. Embolism Classification and external resources ICD 10 I74, I82, O … Wikipedia
List of diseases (A) — A listing of diseases.DiseasesTOC Aa Ab* Aagenaes syndrome * Aarskog Ose Pande syndrome * Aarskog syndrome * Aase Smith syndrome * Aase syndrome * ABCD syndrome * Abasia * Abdallat Davis Farrage syndrome * Abdominal aortic aneurysm * Abdominal… … Wikipedia
List of diseases (C) — A list of diseases in the English wikipedia.C* C syndrome * C1 esterase deficiency (angioedema)CaCac Cal* Cacchi Ricci disease * CACH syndrome * Cafe au lait spots syndrome * Caffey disease * CAHMR syndrome * Calcinosis cutis (see also CREST… … Wikipedia
Budd–Chiari syndrome — Budd Chiari syndrome Classification and external resources Posterior abdominal wall, after removal of the peritoneum, showing kidneys, suprarenal capsules, and great vessels. (Hepatic veins labeled at center top.) ICD 10 I … Wikipedia
Esophageal varices — Classification and external resources Gastroscopy image of esophageal varices with prominent cherry red spots ICD 10 I … Wikipedia
Hepatic veno-occlusive disease — Classification and external resources ICD 10 K76.5 OMIM 235550 Disease … Wikipedia