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Thanatophoric dysplasia

Disease definition

A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.


Classification level: Disorder
  • Synonym(s):
    • TD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q77.1
  • ICD-11: LD24.02
  • OMIM: 156830  187600  187601
  • UMLS: C0039743
  • MeSH: D013796
  • GARD: 85
  • MedDRA: 10049808

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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.