Trichohepatoenteric syndrome is an autosomal recessive disorder caused by mutations of the TTC37 (type 1) and SKIV2L (type 2) genes. It is characerized by intrauterine growth retardation, wolly hair due to Trichorrhexis nodosa, facial dysmorphism, immunodeficiency, and first of all intractable diarrhea which requires parental nutrition early on. Hepathic involvement is mainly responsible for the poor prognosis in some patients.
The prevalence of the whole group is less than 1:1,000,000.
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Fabre A et al. (2012) SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. |
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Dweikat I et al. (2007) Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality. |
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Fabre A et al. (2007) Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder. |