16q24.3 microdeletion syndrome

16q24.3 microdeletion syndrome (also known as chromosome 16q24.3 deletion syndrome) is a rare chromosomal disorder caused by a small deletion (microdeletion) on the long arm of chromosome 16 at band q24.3. This genomic region contains several important genes, and deletions in this area have been associated with a range of developmental and physical abnormalities. The syndrome is characterized by intellectual disability, developmental delay, speech and language impairment, and distinctive facial features. Many affected individuals also present with congenital anomalies that may involve multiple organ systems. Key clinical features can include craniofacial dysmorphisms (such as a broad forehead, short nose, and ear anomalies), growth retardation, feeding difficulties in infancy, and behavioral abnormalities including features of autism spectrum disorder. Some patients may have congenital heart defects, skeletal anomalies, or other organ involvement depending on the size and exact position of the deletion. Notably, deletions encompassing the FOXF1 gene within this region have been specifically associated with alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a severe and often lethal neonatal lung disorder characterized by respiratory failure shortly after birth. There is currently no cure for 16q24.3 microdeletion syndrome. Management is supportive and symptom-based, involving a multidisciplinary team that may include developmental pediatricians, speech and occupational therapists, cardiologists, pulmonologists, and geneticists. Early intervention programs for developmental delay and individualized educational support are important components of care. Genetic counseling is recommended for affected families to discuss recurrence risks and family planning.

Common questions about 16q24.3 microdeletion syndrome