Definition:
Fraser Syndrome is also called Cryptophthalmos-syndactyly syndrome. It is a rare genetic disorder with abnormalities that include that of the head, the lungs, the kidneys, and the limbs. Malformations are a combination of acrofacial and urogenital ones which may be with cryptophthalmos or without.
Diagnosis:
Because of a high recurrence risk, families with a medical history of Fraser syndrome are strictly advised to undergo prenatal diagnosis and also counseling. Prenatal diagnosis should combine major and minor characterization. Positive diagnosis is an outcome whenever 2 major criteria + 1 minor are perceived (or a minimum of 4 minor criteria). Criteria for major characteristics are sibling with Fraser syndrome, Cryptophthalmos, Genital anomalies, and Syndactyly. For minor characteristics, alterations of the nose, ears, and larynx are points for consideration, as well as, oral clefts (lip or palate), umbilical hernia, and skeletal anomalies.
Treatment:
Corrective surgeries may help. However, if a severe case of Fraser Syndrome is positively diagnosed prenatally, the parents are advised to terminate pregnancy.
Symptoms and Signs:
Symptoms associated with this condition may be any one or more of the following: partial webbing of fingers or toes, eyelid fusion. Other symptoms are kidney and genital abnormalities or malformations.
Causes:
Fraser Syndrome is most likely autosomal-recessive since an unusual number of infants are born to consanguineous parents. IT has a recurrence risk of 25 percent among family siblings.
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