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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.

ORPHA:93304

  • 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: -

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