8p23.1 microdeletion syndrome

8p23.1 microdeletion syndrome (also known as chromosome 8p23.1 deletion syndrome or monosomy 8p23.1) is a rare chromosomal disorder caused by a submicroscopic deletion on the short arm of chromosome 8 at band p23.1. This region contains several important genes, including GATA4, which plays a critical role in heart development. As a result, congenital heart defects — particularly atrioventricular septal defects (AVSD), atrial septal defects, and other structural cardiac anomalies — are among the most prominent features of this syndrome. The deletion can occur de novo or may be inherited from a carrier parent who harbors a balanced rearrangement (such as an inversion) involving the 8p23.1 region. Affected individuals typically present with intellectual disability ranging from mild to moderate, developmental delay, speech and language difficulties, and behavioral problems including features overlapping with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder. Characteristic facial features may include a high and broad forehead, arched eyebrows, a short nose with a broad nasal bridge, low-set ears, and a thin upper lip. Additional findings can include microcephaly, diaphragmatic hernia (particularly congenital diaphragmatic hernia, or CDH), and growth restriction. There is no cure for 8p23.1 microdeletion syndrome, and management is supportive and symptom-based. Congenital heart defects often require surgical correction. Early intervention programs including speech therapy, occupational therapy, and special educational support are recommended to optimize developmental outcomes. Behavioral and psychological support may also be beneficial. Regular follow-up with a multidisciplinary team including cardiologists, developmental pediatricians, and geneticists is important for comprehensive care.

Common questions about 8p23.1 microdeletion syndrome