spondyloperipheral dysplasia

Genetics

• associated with defects in COL2A1

Clinical manifestations

• short stature
• midface hypoplasia
• sensorineural hearing loss
• spondyloepiphyseal dysplasia
• platyspondyly
• brachydactyly

More general terms

• skeletal dysplasia

Database

• OMIM: https://mirror.omim.org/entry/271700