What is Fraser syndrome, GRIP1-related? Fraser syndrome is an inherited disease that affects many different parts of the body. There are three different genes associated with Fraser syndrome. Fraser syndrome, GRIP1-related is caused by harmful changes in the GRIP1 gene. The characteristic symptom of the condition is eyes that are either completely or partially covered by skin and malformed (cryptophthalmos), often leading to vision loss or impairment. Other common symptoms include fusion of the skin between the fingers and toes (cutaneous syndactyly), absence or abnormal voice box (larynx) formation, distinct facial features, and dental anomalies. Individuals may also have absent kidneys, bladder defects, abnormally formed genitals, and digestive system defects, including the anus or rectum. Many common birth defects associated with Fraser syndrome may be seen on prenatal ultrasound; however, prenatal imaging may be complex as many fetuses with Fraser syndrome, GRIP1-related, do not have enough amniotic fluid (oligohydramnios). How common Fraser syndrome, GRIP1-related? The incidence of Fraser syndrome caused by any gene is 1 in 200,000 births and 1 in 10,000 stillbirths. Harmful genetic changes in GRIP1 cause less than 10% of cases of Fraser syndrome. How is Fraser syndrome, GRIP1-related treated? There is no cure for Fraser syndrome, GRIP1-related. Treatment is supportive based on an individual’s specific symptoms. Surgery can help correct some birth defects related to the eyelids, fused skin between the fingers and toes, genitalia, and others. Surgery can be challenging for individuals with Fraser syndrome, GRIP1-related because it can be difficult to help them breathe under anesthesia. Special therapies may assist individuals with both hearing and vision loss. Other possible treatments include dental procedures, occupational therapy, and intellectual or developmental delay intervention. What is the prognosis for an individual with Fraser syndrome, GRIP1-related? The prognosis for individuals with Fraser syndrome, GRIP1-related, depends on the severity of their symptoms. Most individuals are stillborn or die within the first year of life, typically due to absent kidneys or a blocked larynx. Individuals who survive into adolescence may experience vision and hearing loss. While some individuals have intellectual disability and/or developmental delays, there are reports of individuals with normal intelligence. Other names forFraser syndrome, GRIP1-related FRASRS3 Fraser syndrome 3 Fraser-Francois syndrome cryptophthalmos-syndactyly syndrome References Barisic, I, et al., 2013, Am J Med Genet A, 161A(5):1012-8, PMID: 23532946 Bouaoud, J, et al., 2020, Int J Oral Maxillofac Surg, 49(10):1245-1253, PMID: 31982235 Gregg, AR, et al., 2021, Genet Med, 23(10):1793-1806, PMID: 34285390 OMIM: Online Mendelian Inheritance in Man, OMIM [617667], 2019, http://www.omim.org/617667 Slavotinek, AM, et al., 2002, J Med Genet, 39(9):623-33, PMID: 12205104 Vogel, MJ, et. al., 2012, J Med Genet, 49(5):303-6, PMID: 22510445 van Haelst, MM, et al., 2007, Am J Med Genet A, 143A(24):3194-203, PMID: 18000968