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Familial osteochondritis dissecans

Disease definition

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

ORPHA:251262

  • Synonym(s):
    • Osteochondritis dissecans and short stature
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: M93.2
  • OMIM: 165800
  • UMLS: -
  • MeSH: -
  • GARD: 4133
  • MedDRA: -

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