Fraser syndrome is a condition that affects many parts of the body.
A key symptom is that the eyes are partially or completely covered by skin, often leading to vision problems or blindness. Other common symptoms include fused skin between the fingers and toes, problems with the voice box, distinct facial features, and dental issues. Some people with Fraser syndrome may also have missing kidneys, bladder defects, abnormal genitals, and problems with the digestive system. There is no cure, but treatment focuses on managing symptoms. Surgery can correct some birth defects, although it can be challenging due to breathing difficulties during anesthesia. Special therapies can help with hearing and vision loss, and other treatments may include dental care, occupational therapy, and support for developmental delays.
Fraser syndrome is caused by pathogenic (disease-causing) variants in 3 different genes and we test for the GRIP1 gene only. This condition exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
Children’s Craniofacial Association
National Organization for Rare Disorders
Written August 2024
