trichohepatoenteric syndrome type 1

(redirected from diarrhoea, syndromic)

trichohepatoenteric syndrome type 1

A syndrome (OMIM:222470) characterised by intrauterine growth retardation; severe diarrhoea in infancy requiring total parenteral nutrition; facial dysmorphia; immunodeficiency; and hair defects (e.g., woolly hair, trichorrhexis nodosa).

Prognosis
Poor, due to hepatic involvement.

Molecular pathology
Caused by defects of TTC37, which encodes a tetratricopeptide repeat protein belonging to the SKI complex that may be involved in exosome-mediated RNA decay.