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Short stature-advanced bone age-early-onset osteoarthritis syndrome

Disease definition

A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.

ORPHA:435804

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent
  • ICD-10: M89.8
  • OMIM: 165800
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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