Orphanet: Thanatophoric dysplasia type 1

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Thanatophoric dysplasia type 1

Disease definition

Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.


Classification level: Subtype of disorder
  • Synonym(s):
    • TD1
    • Thanatophoric dwarfism type 1
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.1
  • OMIM: 187600
  • UMLS: C1868678  C2931282
  • MeSH: -
  • GARD: 9295
  • MedDRA: -

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.