Fraser syndrome is a rare set of birth defects, or a syndrome, caused by an error or change in the genetic code. The most common features are malformed eyes or eyes that are covered by skin, very small or absent eyes, webbed fingers and toes (cutaneous syndactyly), and genital and urinary tract anomalies including missing one or both kidneys (renal agenesis). Other findings may be present as well involving the heart, face and ears. Most individuals with Fraser syndrome are intellectually normal however about twenty percent do not live past their first year due to severe medical problems. Less severely affected persons can live well into adulthood. This syndrome affects roughly 1 in every 200,000 newborns, and 1 in every 10,000 fetuses that do not survive birth.
Fraser syndrome is autosomal recessive syndrome, meaning an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance (25%) of having the disease (by inheriting both changed copies, one from each parent). A genetic counselor or specialist can explain the cuase of Fraser syndrome in more detail.
Diagnosis can be made through a clinical examination at birth and can sometimes be made on ultrasound during pregnancy. Treatment varies on a case-by-case basis and depends on the specific birth defects present. If your baby is born with Fraser syndrome, talk with their pediatrician and specialists to discuss the most current treatment and management options. Although it may be difficult to find someone else with the same diagnosis, it may be helpful to reach out to others experiencing life with vision handicaps as this is the most common difficulty in this disorder.