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Boomerang dysplasia

Disease definition

Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

ORPHA:1263

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.1
  • OMIM: 112310
  • UMLS: C0432201
  • MeSH: C536573
  • GARD: 933
  • MedDRA: -

Detailed information

Professionals

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