Spondyloepiphyseal dysplasia with metatarsal shortening
Spondyloepiphyseal dysplasia with metatarsal shortening
Definition
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, pseudorheumatoid dysplasia, progressive, with hypoplastic toes, SED with metatarsal shortening, spondyloepiphyseal dysplasia with precocious osteoarthritis — per MONDO