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.
Rhizomelic dwarfism is characterised by limb shortening, being most notable proximally:
- achondroplasia (most common short-limbed dwarfism)
- thanatophoric dysplasia
- osteogenesis imperfecta
- rhizomelic chondrodysplasia punctata
- asphyxiating thoracic dysplasia (Jeune disease) 4
- non-rhizomelic chondrodysplasia punctata: Conradi-Hunermann syndrome
- diastrophic dysplasia
- camptomelic dysplasia
- chondroectodermal dysplasia / Ellis-van Creveld syndrome
- Kniest dysplasia
- spondyloepiphyseal dysplasia
- multiple epiphyseal dysplasia: mild limb shortening
- Schmid type
- Pena and Vaandrager type
- Jansen type
- McKusick type
- Pyle disease: metaphyseal dysplasia
- progressive diaphyseal dysplasia: Camurati-Engelmann disease
- more to be added
No single unifying features exist. Please refer to the specific types of skeletal dysplasia for individual features.
Treatment and prognosis
The prognosis is widely variable ranging from being lethal to those having very mild cosmetic deficits.
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