16p11.2p12.2 microduplication syndrome

A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16. The disorder has a highly variable phenotype with typical characteristics of developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder, dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, up slanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.

SNOMEDCT_US