8p23.1 duplication syndrome

A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 8 with a highly variable phenotype. Principle characteristics are mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (atrioventricular septal defect). Other reported features include macrocephaly, attention deficit disorder, seizures, hypotonia and ocular and digital anomalies (poly or syndactyly).

SNOMEDCT_US