Fraser Syndrome (FRASRS)

Fraser syndrome, reported by George Fraser in 1962, is a rare autosomal recessive genetic disorder with three subdivisions (type 1, 2, and 3) (Fraser 1962). This condition is associated with several malformations that appear at birth and affect the eyes, genitourinary, musculoskeletal, and anal sphincter (Fraser 1962). Symptoms include blindness, cryptophthalmos, lacrimal duct malformation or aplasia, syndactyly, multicystic kidney dysplasia, ambiguous genitalia, vaginal and/or anal dysplasia (Fryns et al. 1997). More details on the symptoms are listed in Table 1 (Van Haelst et al. 2007). The manifestations of this syndrome can be detected even before birth; in severe cases, prenatal ultrasound shows changes in the eyes, kidneys, and fingers (Ikeda et al. 2020). Mutations in three genes are known to cause Fraser syndrome: FRAS1, FREM2, and GRIP1. FRAS1 and FREM2 genes code protein components from the FRAS/FREM complex, and GRIP1 sets the correct pathway for FRAS1 and FREM2 in the cell (Smyth and Scambler 2005). This syndrome’s life expectancy is known to be less than a year in 25% of live births (Boyd et al. 1988), but in 2006, an article reported on a 96-year-old female with Fraser syndrome (Impallomeni et al. 2006a).