Fraser Syndrome: A Case Report of a Very Rare Syndrome

Olena Erkun, Tetyana Syrotenko

Abstract

Fraser syndrome is a rare autosomal recessive multiple malformation syndrome. It is characterized by cryptophthalmos, cutaneus syndactyly, malformation of the larynx and genitourinary tract, craniofacial dysmorphisms, mental retardation, and musculoskeletal abnormalities. The diagnosis of this syndrome can be made on the basis of physical examination and occasionally with prenatal ultrasound imaging. Various mutations of FRAS1, FREM2 and GRIP1 genes are known to play a role in the etiology of the disorder. In this article we want to introduce a case of a female newborn, who presented with cryptophthalmos, syndactyly of both feet and hands, ambiguous genitalia, anal fistule, umbilical hernia, unilateral renal agenesis, and craniofacial dysmorphism. In this case report, we aimed to present and discuss our patient’s clinical findings, genetic basis of Fraser syndrome and follow-up cases from the literature.