Short answer · Medically reviewed summary · Last updated: 2023-07-13
Jackson-Weiss Syndrome is a rare genetic disorder that affects the development of the bones in the skull and feet. It is classified as a type of craniosynostosis, a condition where the bones in the skull fuse together prematurely.
What is the prevalence of Jackson-Weiss Syndrome?
Prevalence of Jackson-Weiss Syndrome: how many people are affected worldwide, differences by sex and region, with sources.
Jackson-Weiss Syndrome is a rare genetic disorder that affects the development of the bones in the skull and feet. It is classified as a type of craniosynostosis, a condition where the bones in the skull fuse together prematurely. This syndrome is caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene.
The prevalence of Jackson-Weiss Syndrome is quite low, making it a rare condition. Exact statistics regarding its occurrence are limited, but it is estimated to affect approximately 1 in 100,000 to 1 in 200,000 individuals worldwide. The syndrome has been reported in various ethnic groups and does not show a significant gender bias.
Individuals with Jackson-Weiss Syndrome typically exhibit craniofacial abnormalities such as an abnormal head shape, wide-set eyes, and a prominent forehead. They may also have foot abnormalities including fusion of certain bones and malformed toes. Additionally, some individuals may experience hearing loss and developmental delays.
Diagnosis of Jackson-Weiss Syndrome is based on clinical evaluation, genetic testing, and imaging studies. Treatment options often involve a multidisciplinary approach, including surgical interventions to correct craniofacial and foot abnormalities, as well as ongoing monitoring and support for associated symptoms.
