Czech dysplasia- metatarsal type


Czech dysplasia metatarsal type or progressive pseudorheumatoid arthritis with hypoplastic toes (OMIM no. 609162) is an autosomal-dominant skeletal dysplasia first described in 2004 by Marik et al.1 Affected individuals have a normal stature but usually complain of severe joint pain before adolescence. Restricted mobility in the lower limb joints and a kyphoscoliosis are frequently observed. A typical phenotypic hallmark of the condition is shortening of the third and fourth toes, which is the result of metatarsal hypoplasia. Skeletal radiographs usually reveal signs of early osteoarthrosis in the spine and lower limb joints. Platyspondyly with irregular endplates and elongated vertebrae can be observed in the more severe cases.