Tricho-hepato-enteric syndrome

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{{CMG}; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [1]

Overview

It is a rare genetic disorder presenting in children less than 1 year of age.

Pathophysiology

• It is a genetic disorder with an autosomal recessive inheritance pattern.

• Mutations in TTC37 which encodes the putative protein Thespin, have recently been associated with Tricho-Hepato-Enteric syndrome.

Diagnosis

Symptoms

• Intractable diarrhea

• Intrauterine growth retardation

• Hair abnormalities - prominent forehead and cheeks, a broad nasal root and widely spaces eyes (hypertelorism)

• Facial abnormalities - their hairs are woolly, easily removed and poorly pigmented