trichohepatoenteric syndrome type 1

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.