Female infant with apert syndrome and high imperforate anus without fistula

Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly the hands feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly. The distinct features craniosynostosis-a condition premature closure skull's sutures-, midface hypoplasia-an incomplete development middle face-, syndactyly-webbed fingers or toes-. anorectal malformations (ARMs) associations with AS rare, genetic link highly complex. Only 12.7% ARMs cases were associated that has well-known impact on intellectual development, including AS. To our knowledge, first reported case high imperforate anus without fistula.