Trichohepatoenteric syndrome

Also known as: Phenotypic diarrhea; Syndromic diarrhea

Intractable diarrhea with woolly hair and liver disease.

Medical specialty: Gastroenterology
Subspecialty: Gastroenterology / Pediatric GI disease
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, neonatal onset
Gene(s) involved: SKIV2L, TTC37

Etiology & mechanism

TTC37 or SKIV2L mutation affecting the SKI complex.

Gene(s) involved (2)

SKIV2LTTC37

Symptoms & signs (6)

facial dysmorphismimmunodeficiencyintractable diarrheaintrauterine growth restrictionliver diseasewoolly hair

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.