Tricho-hepato-enteric syndrome: Difference between revisions
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Created page with "__NOTOC__ {{SI}} {{CMG}; {{AE}} {{ADI}} ==Overview== It is a rare genetic disorder presenting in children less than 1 year of age.<ref>http://www.checkorphan.org/disease/..." |
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__NOTOC__ | __NOTOC__ | ||
{{SI}} | {{SI}} | ||
{{CMG}; {{AE}} {{ADI}} | {{CMG}}; {{AE}} {{ADI}} | ||
==Overview== | ==Overview== | ||
It is a rare genetic disorder presenting in children less than 1 year of age.<ref>http://www.checkorphan.org/disease/tricho-hepato-enteric-syndrome</ref> | It is a rare genetic disorder presenting in children less than 1 year of age.<ref>http://www.checkorphan.org/disease/tricho-hepato-enteric-syndrome</ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
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* Mutations in TTC37 which encodes the putative protein Thespin, have recently been associated with Tricho-Hepato-Enteric syndrome. <ref>http://www.ncbi.nlm.nih.gov/pubmed?term=21120949</ref> | * Mutations in TTC37 which encodes the putative protein Thespin, have recently been associated with Tricho-Hepato-Enteric syndrome. <ref>http://www.ncbi.nlm.nih.gov/pubmed?term=21120949</ref> | ||
==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===Symptoms=== | ||
Revision as of 07:37, 29 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]
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