Spondyloepimetaphyseal dysplasia type Strudwick

Spudyloepimetaphyseal dysplasia type Strudwick is the most common spondyloepimetaphyseal dysplasia (SEMD).

The SEMD type Strudwick is characterized by congenital, disproportionate dwarfism and skeletal anomalies such as lordosis, scoliosis, flattened vertebrae, Coxa vara, and clubfoot. Eye abnormalities such as myopia or retinal detachment and the occurrence of a cleft palate are frequently associated.

Furthermore, there is a risk of early arthrosis caused by the skeletal anomalies.