Trichohepatoenteric syndrome
Trichohepatoenteric syndrome
Definition
A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.
Also known as phenotypic diarrhea, phenotypic diarrhoea, SD/THE, syndromic diarrhea, syndromic diarrhea/Tricho-hepato-enteric syndrome, syndromic diarrhoea, Tricho-hepato-enteric syndrome, Trichohepatoenteric syndrome, Trichohepatoenteric syndrome type 1 — per MONDO