Fraser syndrome is a rare congenital disorder characterized by cryptophthalmos and syndactyly. Ophthalmic features are quite common among affected individuals, such as lack of palpebral fissures with severe microphthalmia or anophthalmia, and absent or malformed lacrymal ducts. In addition to syndactyly, Fraser syndrome can involve severe malformations affecting the urinary system (e.g. renal agenesis or hypoplasia), larynx (stenosis, atresia), ears, palate, nose, tongue, and reproductive organs. This syndrome is not usually associated with intellectual impairment and it is most common in families with a history of consanguinity.
Mutations in the FRAS1 gene is associated with Fraser syndrome 1. Fraser syndrome 2 and Fraser syndrome 3 are caused by mutations in FREM2 gene and GRIP1 gene, respectively.