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Brachyolmia

Orpha number ORPHA1293
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
Autosomal recessive
Age of onset Childhood
ICD-10
  • Q76.3
ICD-O -
OMIM
UMLS
  • C0432228
MeSH
  • C537098
MedDRA -

Summary

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.

Expert reviewer(s)

  • Dr Gabrielle J HALPERN

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