Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

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Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs) limited hip abduction and mild genu varum. Flared and irregular metaphyses delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.

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 May 2024

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