Spondyloepiphyseal dysplasia with metatarsal shortening

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Spondyloepiphyseal dysplasia with metatarsal shortening

Synonyms: Czech dysplasia, metatarsal type | SED with metatarsal shortening

A rare genetic primary bone dysplasia disorder characterized by early-onset progressive pseudorheumatoid arthritis platyspondyly and hypoplasia/dysplasia of the third and fourth metatarsals in the absence of ophthalmologic cleft palate and height anomalies.

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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Spondyloepiphyseal dysplasia with metatarsal shortening?

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