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.


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.

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Article information

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

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Cases and figures

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    Case 1: achondroplasia
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    Pyle's disease
    Case 2: Pyle disease
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    Case 3: diastrophic dysplasia
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    Thanatophoric dys...
    Case 4: thanatophoric dysplasia
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7 weeks old
    Case 5: osteogenesis imperfecta
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    Case 6: chondrodysplasia punctata
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    Case 7: Ellis-van Creveld syndrome
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    Case 8: Jeune disease
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