Home > Encyclopedia of Genetic Disorders > Fraser syndrome

Definition

Fraser syndrome, also called cryptophthalmos with other malformations, is a rare non-sex linked (autosomal) recessive genetic disorder that primarily affects the eyes.

Description

Fraser syndrome is named for Canadian geneticist C. R. Fraser, who first described the syndrome in 1962. The syndrome is also referred to as crytophthalmos with other malformations because over 90% of the people born with this syndrome have hidden (crypto-) eyes (ophthalmos). It is alternately called cryptophthalmos-syndactyly syndrome since most affected individuals also have partial fusion or webbing of their fingers or toes (syndactyly).

Individuals affected with Fraser syndrome appear to have hidden eyes (cryptophthalmos) because the skin of their eyelids is partially or fully sealed shut....