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Spondyloepiphyseal dysplasia, Kimberley type

Orpha number ORPHA93283
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q77.7
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (<5th percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographical features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. SEDK is caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait.

Expert reviewer(s)

  • Dr Martine LE MERRER

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