GTR Home > Conditions/Phenotypes > Osteochondritis dissecans

Summary

The skeletal disorder osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue and primarily affects the knee, ankle, and elbow joints. Familial osteochondritis dissecans is characterized by multiple osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short stature, and early-onset osteoarthritis (OA) (summary by Stattin et al., 2010). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away. [from OMIM]

Associated genes

  • Also known as: AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, ACAN
    Summary: aggrecan

Clinical features

Help
  • Waddling gait
  • Growth abnormality
  • Osteoarthritis
  • Exostoses

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