/spondyloepiphyseal dysplasia with metatarsal shortening

spondyloepiphyseal dysplasia with metatarsal shortening

Rare Disease

MONDO:0012206

Also Known As

Czech dysplasiaCzech dysplasia metatarsal typeCzech dysplasia, metatarsal typeSED with metatarsal shorteningpseudorheumatoid dysplasia, progressive, with hypoplastic toesspondyloepiphyseal dysplasia with precocious osteoarthritispseudorheumatoid dysplasia progressive, with hypoplastic toes

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.