Spondylometaphyseal dysplasia type Koslowski

Koslowski spondylometaphyseal dysplasia is the most common form of spondylometaphyseal dysplasia manifesting mainly in vertebral bodies and metaphyses.

Clinically there is a disproportionated dwarfism with a short stem and a disturbed gait pattern. Patients reach a final size of less than 1.40m. The vertebral malformations cause kyphosis and scoliosis.