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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

Classification level: Disorder
  • Synonym(s):
    • Osteochondritis dissecans and short stature
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: M93.2
  • ICD-11: FB82.1
  • OMIM: 165800
  • UMLS: C3665488
  • MeSH: C580095
  • GARD: 4133
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Italiano (2012) Nederlands (2012)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.