Spondyloepiphyseal dysplasia with metatarsal shortening

MONDO:0012206

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.

Also known as: Czech dysplasia, Czech dysplasia metatarsal type, Czech dysplasia, metatarsal type, SED with metatarsal shortening, pseudorheumatoid dysplasia, progressive, with hypoplastic toes, spondyloepiphyseal dysplasia with precocious osteoarthritis, pseudorheumatoid dysplasia progressive, with hypoplastic toes

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