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

Autosomal dominant brachyolmia

Disease definition

Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.


  • Synonym(s):
    • Brachyolmia type 3
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q76.3
  • OMIM: 113500
  • UMLS: C0432227
  • MeSH: -
  • GARD: 10429
  • MedDRA: -

Detailed information


Additional information

Specialised Social Services

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.