Cureus · 2026
Fraser Syndrome From Prenatal Diagnosis to Multidisciplinary Management and Long-Term Care: A Narrative Review.
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Rana Shanza
Аннотация
Fraser syndrome (FS) is a rare autosomal recessive congenital malformation disorder characterised by cryptophthalmos, syndactyly, and variable respiratory, renal, genitourinary, craniofacial, and other systemic abnormalities. Considerable phenotypic heterogeneity creates challenges in prenatal recognition, prognostic counselling, neonatal management, and long-term care. Prenatal diagnosis may be particularly difficult because characteristic external abnormalities are not always detectable on ultrasonography, while oligohydramnios secondary to renal abnormalities may further limit fetal visualisation. The coexistence of renal agenesis and congenital high airway obstruction sequence may provide an important diagnostic clue. Following birth, airway abnormalities represent a major management challenge because laryngeal and subglottic abnormalities can result in difficult or impossible tracheal intubation. Ophthalmological, maxillofacial, dental, genetic, and other specialist input may also be required according to the individual phenotype. Although severe forms of FS are associated with poor fetal and neonatal outcomes, survival into adolescence and adulthood has been reported, shifting management priorities towards rehabilitation, function, and quality of life. This narrative review examines the current literature on FS, with particular emphasis on prenatal diagnosis, genetic assessment, airway and perioperative management, ophthalmological care, multidisciplinary rehabilitation, and long-term outcomes.