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Brachyolmia

Disease definition

Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.

ORPHA:1293

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q76.3
  • OMIM: -
  • UMLS: C0432228
  • MeSH: C537098
  • GARD: 10903
  • MedDRA: -

Additional information

Specialised Social Services

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