trichohepatoenteric syndrome type 2

(redirected from THES2)

trichohepatoenteric syndrome type 2

A syndrome (OMIM:614602) characterised by intrauterine growth retardation; severe diarrhoea in infancy requiring total parenteral nutrition; facial dysmorphism; immunodeficiency; and hair defects (e.g., woolly hair, trichorrhexis nodosa).

Prognosis
Poor, due to hepatic involvement.

Molecular pathology
Defects of SKIV2L, which encodes a DEAD box protein and helicase with ATPase activity, cause trichohepatoenteric syndrome type 2.