Spondyloperipheral dysplasia

Spondyloperipheral dysplasia

Spondyloperipheral dysplasia (MIM 271700) is an autosomal dominant disorder caused by mutations in the C-propeptide domain of COL2A1. The phenotype is somewhat variable but patients have platyspondyly and brachydactyly E-like changes (short metacarpals and metatarsals, short distal phalanges in the hands and feet). Additional findings may include shortening of the long bones, kyphosis, lordosis, narrow chest, club feet, midface hypoplasia and cleft palate. Patients can have delayed ossification of the pubic and ischial bones and epiphyseal irregularities. The clinical features of spondyloperipheral dysplasia are similar to platyspondylic lethal skeletal dysplasia, Torrance type (PLSDT), another disorder caused by mutations in the C-propeptide domain of COL2A1. Individuals with spondyloperipheral dysplasia have been described with myopia and sensorineural hearing loss. These features may serve to distinguish spondyloperipheral dysplasia from PLSDT.