Trichothiodystrophy

Orpha code: 33364OMIM code: 616395

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
-

No additional description.

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