Tricho-hepato-enteric syndrome, also known as syndromic or phenotypic diarrhea, is an extremely rare congenital bowel disorder that shows itself as intractable diarrhea in infants who also have intrauterine growth retardation and abnormalities of the hair and face. Many also have liver disease and abnormalities of the immune system, and the resulting malabsorption leads to malnutrition and failure to thrive. It is thought to be a genetic disorder with an autosomal recessive pattern of inheritance, but the responsible genes have not been found and the exact cause remains unknown. The prognosis is poor, with many patients dying before age five, mainly from infection or cirrhosis, although most now survive on intravenous feeding.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category)Idiopathic / Multifactorial 1 Sources
1. Tricho-hepato-enteric syndrome (Wikipedia)
Lead, first sentence
extremely rare congenital bowel disorder
lead sentence 1
Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely rare congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, and hair and facial abnormalities.
Lead: disease category
Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely rare congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, and hair and facial abnormalities.
Lead - causative-agent
It is thought to be a genetic disorder with an autosomal recessive inheritance pattern, although responsible genes have not been found and the exact cause remains unknown.
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