Spondyloepimetaphyseal dysplasia

Spondyloepimetaphyseal dysplasia (SEMD) involves a group of chondrodysplasias with changes in the vertebral body and the metaphyses and epiphyses of the long bones.

The main feature is a disproportionate dwarfism. Often, there is hyperlordosis and limited flexibility in the hip. Furthermore, myopia and cleft palate can occur.

SEMD can be autosomal dominant or autosomal recessive. The SEMD type Strudwick is the most common form.

Spondyloepimetaphyseal dysplasia (SEMD) comprises a group of chondrodysplasias with changes in the vertebral body, metaphyses and epiphyses of the long bones.

Main feature is the dysproportional dwarfism. There is often hyperlordosis and limited mobility in the hips. Furthermore, myopia and cleft palate may appear.

SEMD can be autosomal dominant or autosomal recessive. The SEMD type Strudwick is the most common form.