Trichothiodystrophy

Definition

A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.

Disease data

Classification

Disease

ORPHA code

33364

OMIM code

616395

ICD10 code

L67.8

ICD11 code

*Soruce