Bilateral Cryptophthalmos as the Ocular Manifestation of Fraser Syndrome: A Rare Case Report

Abstract

Introduction: Fraser syndrome, also known by several other names, is a rare genetic disorder with a prevalence of less than 0.043 per 10,000 live births. It is characterized by a unique combination of abnormalities, with cryptophthalmos being a prominent diagnostic feature. The genetic basis of the syndrome has been linked to mutations in the FRAS1 gene and other related genes. Accurate diagnosis can be made at birth, and the severity of associated abnormalities determines the treatment and prognosis. With its rarity and highly variable combination of manifestation and etiologies, this case report is sought to present a rare case of frase syndrome in a naturally born term infant. Case illustration: An infant with several congenital abnormalities was consulted in the neonatal emergency room. At 2235 grammes, the baby is the fifth child born out of five pregnancies. Exam results supporting the diagnosis of Fraser syndrome included severe facial dysmorphism with bilateral abortive cryptophthalmos, bilateral microtia, limbal dermoid, Tessier 8 facial cleft, nasal deformities, polydactyly on both hands, patent ductus arteriosus, and severe hydrocephalus. Discussion: Using the diagnostic standards put forth by Thomas et al., a clinical examination can identify Fraser syndrome. Cryptophthalmos, syndactyly, having a sibling with cryptophthalmos, and deformed genitalia are the main requirements. The congenital nose, ear, and laryngeal deformities, skeletal abnormalities, umbilical hernia, renal agenesis, and mental retardation are the minor characteristics. For a diagnosis to be made, either two major criteria or one major and four minor criteria must be present. Abortive cryptophthalmos, polydactyly in both hands, and congenital deformities of the nose and ears were seen in this instance. Conclusion: Fraser syndrome does not presently have a treatment. Surgery is only used to repair the deformities brought on by this illness. The severity of the particular defects determines the prognosis in the absence of therapy. Sadly, children with severe abnormalities often die within the first year of their lives.