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


Engelska synonymer

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