Is Fraser Syndrome hereditary?

Fraser Syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by various abnormalities including malformations of the eyes, ears, nose, and genitalia. The exact cause of Fraser Syndrome is not fully understood, but it is believed to be primarily caused by mutations in the FRAS1, FREM2, or GRIP1 genes.

Is Fraser Syndrome hereditary?

Fraser Syndrome is typically inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene in order for their child to be affected. When both parents are carriers, there is a 25% chance with each pregnancy that their child will have Fraser Syndrome, a 50% chance that the child will be a carrier like the parents, and a 25% chance that the child will not inherit the mutated gene.

It is important to note that Fraser Syndrome can also occur sporadically, without any family history of the disorder. In these cases, the genetic mutation arises spontaneously during the formation of reproductive cells or early embryonic development.

Genetic testing and counseling

If there is a family history of Fraser Syndrome or if a child is suspected to have the disorder, genetic testing can be performed to confirm the diagnosis and identify the specific gene mutation involved. Genetic counseling is highly recommended for individuals or couples who have a family history of Fraser Syndrome or who are carriers of the mutated gene. A genetic counselor can provide information about the risks, inheritance patterns, and available options for family planning.

In conclusion, Fraser Syndrome can be hereditary, typically following an autosomal recessive pattern of inheritance. However, it can also occur sporadically without any family history. Genetic testing and counseling are important tools for understanding the risk and making informed decisions regarding family planning.