| Tricho-hepato-enteric syndrome | |
|---|---|
| Other names | Intractable diarrhea of infancy with facial dysmorphism[1] |
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| Typical facial abnormalities with prominent forehead and cheeks, broad nasal root and wide-spaced eyes. Abnormal hairs are woolly, easily removed and poorly pigmented. | |
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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.[2] Many also have liver disease and abnormalities of the immune system.[2] The associated malabsorption leads to malnutrition and failure to thrive.[2]
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. Prognosis is poor; many patients die before the age of 5 (mainly from infections or cirrhosis), although most patients nowadays survive with intravenous feeding (parenteral nutrition).
- ^ Fabre A, André N, Breton A, Broué P, Badens C, Roquelaure B (March 2007). "Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder". Am. J. Med. Genet. A. 143 (6): 584–8. doi:10.1002/ajmg.a.31634. PMID 17318842. S2CID 39567209.
- ^ a b c Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP (2008). "Syndromic (phenotypic) diarrhea in early infancy". Orphanet J Rare Dis. 3: 6. doi:10.1186/1750-1172-3-6. PMC 2279108. PMID 18304370.