Tricho-hepato-enteric syndrome: Difference between revisions
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Revision as of 07:37, 29 July 2012
{{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.[1]
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. [2]
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