Fraser,syndrome,Detailed,Infor health Fraser syndrome Detailed Information
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Fraser syndrome is also referred to as crytophthalmos with extra malformations because over 90% of the people born with this syndrome have hidden (crypto-) eyes (ophthalmos). It is alternately called cryptophthalmos-syndactyly syndrome since most affected individuals also have partial fusion or webbing of their fingers or toes (syndactyly). It is characterized by developmental defects including underdevelopment of the eyes (cryptophthalmos) and the genitals (micropenis, cryptorchidism or clitoromegaly). Congenital malformations of the nose, ears, larynx, and renal system as well as mental retardation are apparent occasionally. In Childs with Fraser syndrome, renal malformations may embrace improper development (dysphasia), underdevelopment (hypoplasia), or absence of one or both kidneys (unilateral or bilateral renal agenesis). In affected males, one or both testes may fail to descend into the scrotum (cryptorchidism), the urinary opening (meatus) may be abnormally placed on the underside of the penis (hypostasis), and/or the penis may be abnormally small (micropenis). Fraser syndrome has a recurrence hazard of 25 % among siblings. Affected females may have malformed fallopian tubes, an abnormally enlarged clitoris (clitoromegaly), and/or an abnormally shaped uterus (bicorn ate uterus). In addition, the folds of skin on also side of the vaginal opening (labia) may be oddly fused. Childs and children with Fraser syndrome may also have other abnormalities including malformations of the middle and outer ear that may result in hearing impairment. Fraser syndrome is inherited as an autosomal recessive genetic trait. The genetic condition of this disease has been allied to a gene called FRAS1, which appears to be absorbed in skin epithelial morphogenesis during early development. It has also been associated with FREM2. Treatment of Fraser syndrome may comprise surgery to correct some of the malformations associated with this disorder. Article Tags: Fraser Syndrome
Fraser,syndrome,Detailed,Infor