Synonyms: syndromic diarrhea, phenotypic diarrhea
Inheritance: presumed to be autosomal recessive
Features of the hair (tricho) component:
(1) wooly hair that is easily removed
(2) poor pigmentation
(3) trichorrhexis nodosa, trichothiodystrophy and other microscopic abnormalities
Features of the hepatic component:
(1) cirrhosis with excess iron (neonatal hemochromatosis)
Features of the enteric component:
(1) severe diarrhea starting in early infancy
(2) partial or total villous atrophy in small bowel biopsy
Facial features:
(1) prominent forehead
(2) prominent cheeks
(3) broad nasal root
(4) hypertelorism
Additonal findings:
(1) intra-uterine growth retardation
(2) failure to thrive with malnutrition requiring parenteral nutrition
(3) short stature
(4) mental retardation
(5) immunodeficiency
