[2] It is thought to be a genetic disorder with an autosomal recessive inheritance pattern, although responsible genes have not been found and the exact cause remains unknown.

Tricho-hepato-enteric syndrome is one particular form of intractable diarrhea of infancy, presenting typically in the first month of life.

These babies are usually born small for their age and continue to experience failure to thrive, usually with a final short stature.

Typical facial features include prominent forehead and cheeks, a broad nasal root and widely spaced eyes (hypertelorism).

The gene is 91,113 bases in length and encodes a protein of 1564 amino acid residues with twenty tetratricopeptide repeats.

A homolog has been identified in the frog (Xenopus tropicalis), the mouse (Mus musculus) and the rat (Rattus norvegicus).

[citation needed] There may be fibrosis with bile duct proliferation, occasional giant cells and regenerative parenchymal nodules.

[citation needed] Microscopic examination of a biopsy of the small bowel in these patients shows villous atrophy with low or no mononuclear cell infiltration of the lamina propria nor specific abnormalities involving the epithelium.

[citation needed] Studies of enterocyte brush-border ion transporter proteins (sodium-hydrogen exchanger 2, sodium-hydrogen exchanger 3, aquaporin 7, sodium-iodide symporter and hydrogen potassium ATPase) showed reduced expression or mislocalization in all patients with different profiles for each.