Definition of Fraser Syndrome

Reviewed on 4/14/2021

Fraser syndrome is a rare genetic syndrome in which affected infants have fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genital areas and urinary tract. Other signs and symptoms can include abnormalities of the respiratory tract, failure of kidney development affecting one or both kidneys (renal agenesis), abnormalities of the nose and ear, umbilical hernia, skeletal abnormalities, cleft palate and lip, and intellectual disability. The condition can be fatal before birth or shortly after birth.

Mutations in one of three genes known as FRAS1, GRIP1, and FREM2 cause Fraser syndrome. People inherit it in an autosomal recessive manner, meaning that an affected person has to receive a defective gene copy from each parent to have the syndrome.

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References
United States. "Fraser Syndrome." NIH. Genetic and Rare Diseases Information Center. Dec. 7, 2016. <https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome>.

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