Causes & Risk Factors Of Fraser Syndrome

Fraser syndrome is a rare genetic disorder. Children born with this gene mutation have webbed or fused fingers and fused eyelids that render them blind. They also have abnormalities of the kidneys, including underdeveloped kidneys that can be unusually small or even absent. The child may lack one or both kidneys. They also have abnormalities of the genitals including undescended testicles, abnormal urinary openings, deformed fallopian tubes, or a bicornate uterus, which means the uterus, instead of being pear-shaped, has two horns. The vaginal labia may also be fused. Doctors diagnose Fraser syndrome through a medical exam, a medical history of the family, and by imagining tests such as computerized tomography (CT) scans. Get to know the causes and risk factors of Fraser syndrome now.

Gene Mutation

Fraser syndrome is an autosomal recessive genetic disease. In an autosomal recessive pattern, the baby inherits the gene mutation from both of their parents. One of the genes is called 4q21, or FRAS1, and is found on the 21 band on the long arm, or 'q' of chromosome 21. Some genetic experts claim 4q21 has to be accompanied by mutated GRIP1 and FREM2 genes to result in Fraser syndrome. The FRAS1 gene works with the FREM2 gene to code for proteins. They help the internal organs and skin develop properly. The GRIP1 gene helps the body make a protein that helps the proteins of the other two genes enter the developing cells and help them grow at the right pace and in the correct places. The mutations in these three genes are believed to cause the severe abnormalities of Fraser syndrome. Some geneticists believe even more genes than these three need to be mutated for the child to be born with the disorder.

Continue reading for more on the causes and risk factors of Fraser syndrome.