Fraser syndrome: A case report

Abstract

Fraser syndrome (cryptophthalmos syndrome) is a congenital anomaly in which cryptophthalmos is the main feature. Other malformations can include syndactyly, craniofacial and urogenital anomalies. It is a rare autosomal recessive condition with FRAS1, FREM2 and GRIP1 genes mutation. We report a case of 2 months old male child born to consanguineous parents. He presented with unilateral cryptophthalmos and some features that were compatible with diagnostic criteria of Fraser syndrome such as syndactyly, high arched palate with ankyloglossia, cryptorchidism and hypospadias. It can be diagnosed by antenatal ultrasound and clinical examination. We also present the criteria for diagnosing Fraser syndrome, its prenatal findings and ocular management.