20q11.2 microduplication syndrome

A rare chromosomal anomaly syndrome caused by partial duplication of the long arm of chromosome 20. The disorder has characteristics of psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features.

SNOMEDCT_US