Fraser syndrome

Disease Overview

Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract. Signs and symptoms occur early in development and may also include abnormalities of the respiratory tract, specifically involving the larynx (voice box) and trachea (windpipe); failure of kidney development affecting one or both kidneys (renal agenesis); umbilical hernia; abnormalities of the nose and ear; cleft lip and palate; skeletal abnormalities; and intellectual disability.[12722][12723][12724] Depending on the severity of the signs and symptoms, Fraser syndrome can be fatal before or shortly after birth. Less severely affected individuals can live into childhood or adulthood.[12722][12724] 

Fraser syndrome is caused by mutations in three different genes: FRAS1, GRIP1, and FREM2 and is inherited in an autosomal recessive manner.[12722][12723] This condition is diagnosed based on signs and symptoms. Genetic testing may be useful to confirm the diagnosis.[12724] While there is no cure for Fraser syndrome, there may be ways to manage symptoms, depending on the severity. A team of doctors is often needed to figure out the treatment options for each person. 

Synonyms

• Cryptophthalmos with other malformations
• Cryptophthalmos-syndactyly syndrome
• Cryptophthalmos syndrome
• Cyclopism
• Fraser-Francois syndrome
• Meyer-Schwickerath's syndrome
• Ulrich-Feichtiger syndrome