Trichohepatoenteric syndrome 2

Trichohepatoenteric syndrome 2 is an autosomal recessive disorder caused by mutations of the SKIV2L gene. It is characerized by intrauterine growth retardation, wolly hair due to Trichorrhexis nodosa, fycial dysmorphism, immunodeficiency, and first of all intractable diarrhea which requires parental nutrition ealy on. Hepathic involvement is mainly responsible for the poor prognosis in some patients.

Epidemiology

The prevalence of all trichohepatoenteric syndromes is less than 1:1,000,000.

Systematic

Trichohepatoenteric syndrome
	Trichohepatoenteric syndrome 1
	Trichohepatoenteric syndrome 2
		SKIV2L

References:

1.	Fabre A et al. (2012) SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

2.	Egritas O et al. (2009) Tricho-hepato-enteric syndrome presenting with mild colitis.

3.	Fabre A et al. (2013) Syndromic diarrhea/Tricho-hepato-enteric syndrome.

4.	Wikipedia article Wikipedia EN (Tricho-hepato-enteric_syndrome)