Jackson-Weiss Syndrome is a rare genetic disorder that affects the development of the bones in the skull and face. It is characterized by premature fusion of certain skull bones, leading to craniosynostosis, as well as abnormalities in the shape and positioning of the facial bones.
Research has shown that Jackson-Weiss Syndrome is hereditary, meaning it can be passed down from parents to their children. It follows an autosomal dominant pattern of inheritance, which means that an affected individual has a 50% chance of passing the condition on to each of their children.
The syndrome is caused by mutations in the JAG1 or FGFR2 genes. These genes provide instructions for the production of proteins that are involved in the development and maintenance of bones and other tissues in the body. When these genes are altered, it disrupts the normal growth and fusion of the skull and facial bones, leading to the characteristic features of Jackson-Weiss Syndrome.
It is important to note that not all individuals with a mutation in the JAG1 or FGFR2 genes will develop Jackson-Weiss Syndrome. This is due to a phenomenon called variable expressivity, where the severity and specific features of the syndrome can vary among affected individuals, even within the same family.
Genetic counseling is recommended for individuals with a family history of Jackson-Weiss Syndrome or those who have been diagnosed with the condition themselves. A genetic counselor can provide information about the inheritance pattern, recurrence risks, and available testing options for family members.