A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 1. The disease has characteristics of borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (for example atrial septal defect, patent ductus arteriosus) have also been reported. [from
SNOMEDCT_US]