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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Spondyloepimetaphyseal dysplasia, Isidor-Toutain type?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
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