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Spondyloepiphyseal dysplasia, Kimberley type

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
  • Q77.7
MeSH -
MedDRA -


Disease definition

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.

Clinical description

The main clinical features may include proportionate short stature (


SEDK is caused by mutation in the aggrecan gene (AGC1, locus 15q26.1).

Genetic counseling

SEDK is transmitted as an autosomal dominant trait.

Expert reviewer(s)

  • Dr Martine LE MERRER

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Detailed information

Review article
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