Spondyloepimetaphyseal Dysplasia, Strudwick Type

Spondyloepimetaphyseal Dysplasia, Strudwick Type

Spondyloepimetaphyseal dysplasia, Strudwick type, is a rare genetic disorder affecting bone growth. Individuals with this condition exhibit short stature, spinal abnormalities, and joint limitations. The disorder follows an autosomal dominant inheritance pattern, often resulting from mutations in the COL2A1 gene. Diagnosis typically involves genetic testing and radiographic imaging.