8p23.1 duplication syndrome

8p23.1 duplication syndrome is a rare chromosomal condition caused by a partial duplication of the short arm of chromosome 8. People with this condition may show a wide range of features, which can include mild to moderate developmental delay and intellectual disability. In addition, many individuals have mild differences in facial features, such as a prominent forehead, arched eyebrows, a broad nasal bridge, upturned nares, and sometimes cleft lip or palate. Congenital heart anomalies, including types like atrioventricular septal defects, are also noted. Other aspects that have been reported include macrocephaly (a larger head size), behavioral challenges like attention deficit disorder, seizures, reduced muscle tone (hypotonia), and changes in the eyes or fingers and toes (such as extra or webbed digits). The syndrome is also known by other names including dup(8)(p23.1p23.1) and trisomy 8p23.1.

Common signs and symptoms include developmental delay and intellectual disability in a mild to moderate form. Many people also present with facial differences such as a prominent forehead, arched eyebrows, a broad nasal bridge, upturned nares, and sometimes cleft lip and/or palate. Congenital cardiac anomalies, including defects like atrioventricular septal defects, are a key feature. Other reported symptoms include macrocephaly, behavioral differences (such as attention deficit disorder), seizures, low muscle tone, and ocular or digital anomalies like extra or webbed digits.

This condition is caused by a partial duplication of the short arm of chromosome 8. The duplication leads to an extra copy of genetic material, which can result in a variety of symptoms. The exact reasons for the variation in presentation among individuals are not fully understood.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.