Which are the causes of Jackson-Weiss Syndrome?

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 craniosynostosis syndrome, which means that the bones in the skull fuse together prematurely, leading to various craniofacial and skeletal abnormalities. The syndrome was first described by Jackson and Weiss in 1976, hence the name.

The primary cause of Jackson-Weiss Syndrome is a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and other tissues in the body. Mutations in the FGFR2 gene disrupt the normal signaling pathways that regulate bone growth and development, leading to the characteristic features of the syndrome.

The inheritance pattern of Jackson-Weiss Syndrome is autosomal dominant, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder. In some cases, the mutation occurs spontaneously during the formation of reproductive cells or early embryonic development.

While the exact triggers for the mutation in the FGFR2 gene are not fully understood, certain risk factors have been identified. Advanced paternal age at the time of conception has been associated with an increased risk of having a child with Jackson-Weiss Syndrome. Additionally, individuals with a family history of the syndrome are more likely to pass on the mutated gene to their offspring.

The characteristic features of Jackson-Weiss Syndrome include craniosynostosis (premature fusion of the skull bones), brachydactyly (shortened fingers and toes), and midface hypoplasia (underdevelopment of the middle region of the face). These abnormalities can vary in severity and may require surgical intervention to correct functional and cosmetic issues.

In conclusion, Jackson-Weiss Syndrome is primarily caused by a mutation in the FGFR2 gene, disrupting normal bone development. While the exact triggers for the mutation are not fully understood, advanced paternal age and a family history of the syndrome are considered risk factors. Early diagnosis and appropriate medical management are crucial in improving the quality of life for individuals affected by this rare genetic disorder.