Management

Management should be multidisciplinary, involving clinical genetics, audiology, ophthalmology, cardiology, urology, neurosurgery, and developmental pediatrics. Depending on the clinical presentation, surgical interventions may be required for cleft lip/palate repair, urogenital anomalies (e.g., hypospadias, cryptorchidism), craniosynostosis, or abdominal wall defects such as omphalocele. Ophthalmologic assessment is advised for structural eye anomalies, and early audiologic evaluation is important due to the frequent occurrence of sensorineural hearing loss. Developmental monitoring and neurocognitive support should be offered, especially in individuals with developmental delay or intellectual disability. Regular follow-up is recommended to address emerging systemic issues. Genetic counseling should be provided to affected families, particularly in the context of autosomal recessive inheritance and recurrence risk in future pregnancies.