Tricho-Hepato-Enteric Syndrome is a rare congenital enteropathy.


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


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