Conditions / Genetic
spondyloperipheral dysplasia
info · Genetic
An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
Signs and symptoms
- Limited elbow extension
- Brachydactyly
- Short stature
- Flat capital femoral epiphysis
- Short metacarpal
- Short distal phalanx of the 3rd finger
- Rhizomelic leg shortening
- Shortening of all middle phalanges of the fingers
- Short distal phalanx of the 2nd finger
- Irregular vertebral endplates
Also known as: spondyloperipheral dysplasia-short ulna syndrome