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Autosomal recessive brachyolmia

Disease definition

Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.

ORPHA:448242

Classification level: Disorder
  • Synonym(s):
    • Brachyolmia, Hobaek/Toledo type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q76.3
  • OMIM: 271530  271630
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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