SNP Shot: Genomic Insights

Spondyloepimetaphyseal dysplasia, Strudwick type, is a genetic bone growth disorder characterized by short stature (dwarfism), skeletal deformities, and visual impairments. The condition primarily affects the spine (indicated by "spondylo-") and the epiphyses and metaphyses, which are regions located near the ends of the long bones in the arms and legs. The "Strudwick type" designation refers to the name of the first patient documented with this specific dysplasia.

Individuals with this condition exhibit short stature from birth, marked by a disproportionately short trunk and limbs. In contrast, their hands and feet are generally of average size. Common skeletal features include excessive inward curvature of the lower spine (lordosis) and/or lateral curvature of the spine (scoliosis). Severe spinal curvature can lead to respiratory difficulties. Instability of the neck vertebrae increases the potential for spinal cord injury. Additional skeletal manifestations include flattened vertebrae (platyspondyly), significant protrusion of the sternum (pectus carinatum), coxa vara (a hip joint abnormality causing inward rotation of the upper leg bones), and clubfoot (an inward and upward turning of the foot). Early-onset arthritis is also frequently observed.

Individuals with spondyloepimetaphyseal dysplasia, Strudwick type, may present with subtle facial changes. Some infants are born with a cleft palate, and flattened cheekbones may be apparent. Eye problems are common, including high myopia (severe nearsightedness) and retinal detachment, both of which can impair vision.

Inheritance:

This disorder follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene is needed in each cell to cause the condition.