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Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

Orpha number ORPHA253
Synonym(s) SED and SEMD
Prevalence Unknown
Inheritance Autosomal dominant
Autosomal recessive
X-linked recessive
Age of onset All ages
ICD-10
  • Q77.7
ICD-O -
OMIM -
UMLS
  • C0038015
MeSH -
MedDRA
  • 10062920
SNOMED CT
  • 367530008

Summary

Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. Their most frequent form is characterized by small neonatal size of ovid vertebrae and overall late growth of bones, more marked in the femoral heads, with a slightly irregular metaphyseal limit. Ischiopubian branches are also slow to appear. Both the trunk and the limbs are small in size. Hyperlordosis and limited movement of hips are common findings. Myopia and cleft palate may be associated. This form is inherited as an autosomal dominant trait and seems to be due to a mutation on the gene coding for collagen II (chromosome 12). Other clinical forms have been described, some of which were dominant and more or less severe with metaphyseal lesions, while others were recessive and included nephrotic syndrome, lymphopenia, and immune disorders (immune bone dysplasia).

Expert reviewer(s)

  • Dr Martine LE MERRER

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