Disease Information for Cryptophthalmos (Fraser) syndrome

Fraser Syndrome; Cryptophthalmos-Syndactyly Syndrome

Fraser Syndrome is a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmos) that may be associated with malformation of the eyes, causing blindness; In infants with Fraser Syndrome, renal malformations may include improper development (dysplasia), 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 (hypospadias), and/or the penis may be abnormally small (micropenis); Affected females may have malformed fallopian tubes, an abnormally enlarged clitoris (clitoromegaly), and/or an abnormally shaped uterus (bicornate uterus); In addition, the folds of skin on either side of the vaginal opening (labia) may be abnormally fused; 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; Fraser Syndrome is inherited as an autosomal recessive genetic trait--------[NORD 2005]---------------------

An association of cryptophthalmos with a wide range of abnormalities, consisting mostly of orofacial defects, laryngeal stenosis, syndactyly, decreased number of digits, renal dysplasia, and hypogenitalism; A small number of cases consist of only acrofacial and urogenital malformations without cryptophthalmos; Synonym: Fraser-François syndrome. [Jablonski anomalies website 2005]

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