Spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs.
| Gene Name | Chromosome number |
|---|---|
| PAPSS2 | 10 |