Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

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Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Synonyms: SEMDIST | Spondyloepimetaphyseal dysplasia with severe short stature

A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs) severe genu varum flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small irregular proximal femoral and knee epiphyses severe coxa vara delayed ossification of proximal femoral epiphyses and irregular distal femoral and proximal tibial metaphyses.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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