Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

Synonym(s) SED and SEMD
Prevalence Unknown
Inheritance Autosomal dominant
or Autosomal recessive
or X-linked recessive
Age of onset All ages
  • Q77.7
  • C0038015
MeSH -
  • 10062920


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

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.