Fraser Syndrome

“Fraser syndrome (FS) is a rare genetic disorder characterized by several malformations that are present at birth. These include eyes that are completely covered by the skin and usually malformed (cryptophthalmos) causing blindness; fusion of the skin between the fingers and toes (cutaneous syndactyly), a blocked or missing anal opening (imperforate anus); limb anomalies; kidney (renal) abnormalities; external genital malformations; a narrow, blocked and malformed voice box and lower respiratory tract (nostrils, larynx and lungs); skeletal defects; umbilical hernia and intellectual disability. Infants and children with Fraser syndrome may also have additional abnormalities including malformations of the middle and outer ear that may result in hearing impairment. More recently, missing eyes (bilateral anophthalmia) and liver malformations (intrahepatic biliary atresia) have been found in children with FS. Fraser syndrome is inherited in an autosomal recessive pattern. There is currently no cure for FS but surgery is available to correct some malformations associated with this disorder, depending on the severity of the malformations. Fraser syndrome is named after the Canadian geneticist George R. Fraser who first described the syndrome in 1962.” Read More


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