Orphanet: Trichothiodystrophy

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Disease definition

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: L67.8
  • OMIM: 234050  300953  601675  616390  616395  616943  618546
  • UMLS: C0740342  C1955934
  • MeSH: C536559  D054463
  • GARD: 12109
  • MedDRA: 10044628

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.