Fraser Syndrome

Frasers syndrom

Engelsk definition

Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.

Svenska synonymer

Kryptofalmos-syndaktylisyndrom

Engelska synonymer

Syndrome, Fraser — Cryptophthalmos with Other Malformations — Cryptophthalmos-Syndactyly Syndrome — Cryptophthalmos Syndactyly Syndrome — Cryptophthalmos-Syndactyly Syndromes