Skeletal dysplasia

Skeletal dysplasias (osteochondrodysplasias) refer to an abnormality in bone formation. There is a very wide clinicopathological spectrum and any part of the skeleton can be affected.

The overall prevalence is estimated at ~2 per 10,000 live births 3.

Types

At least 32 groups 3 with more than 350 distinct entities have been described 6. One way of broadly classifying them is onto limb deficiency, limb shortening/dysplastic or non-limb shortening types. Another way of categorising can be according to if the dysplasia is sclerosing or non-sclerosing.

Limb deficiencies
Limb shortening/dysplastic

See: short limb skeletal dysplasias

Rhizomelic dwarfism

Rhizomelic dwarfism is characterised by limb shortening, being most notable proximally:

Non-rhizomelic dwarfism
Non-limb shortening

No single unifying features exist. Please refer to the specific types of skeletal dysplasia for individual features.

The prognosis is widely variable ranging from being lethal to those having very mild cosmetic deficits.

Share article

Article information

rID: 8804
Section: Gamuts
Synonyms or Alternate Spellings:
  • Skeletal dysplasias

Support Radiopaedia and see fewer ads

Cases and figures

  • Drag
    Case 1: achondroplasia
    Drag here to reorder.
  • Drag
    Pyle's disease
    Case 2: Pyle disease
    Drag here to reorder.
  • Drag
    Case 3: diastrophic dysplasia
    Drag here to reorder.
  • Drag
    Thanatophoric dys...
    Case 4: thanatophoric dysplasia
    Drag here to reorder.
  • Drag
    OI

7 weeks old
    Case 5: osteogenesis imperfecta
    Drag here to reorder.
  • Drag
    Case 6: chondrodysplasia punctata
    Drag here to reorder.
  • Drag
    Case 7: Ellis-van Creveld syndrome
    Drag here to reorder.
  • Drag
    Case 8: Jeune disease
    Drag here to reorder.
  • Updating… Please wait.
    Loadinganimation

    Alert accept

    Error Unable to process the form. Check for errors and try again.

    Alert accept Thank you for updating your details.