Apert syndrome


Apert syndrome, also known as acrocephalosyndactyly type 1 (ACS1), is a rare genetic disorder that occurs when the bones in the skull fuse together sooner than normal. This prevents the head from growing normally and affects the shape of the face. Some of the child's fingers and toes may also be webbed or fused together. In addition, some people may have intellectual disabilities that range from mild to severe.
Researchers estimate that Apert syndrome affects about one out of 65,000-100,000 individuals at birth.
Early diagnosis and treatment is important to ensure that the child is able to meet his/her maximum potential for growth and development. Children with Apert syndrome need to undergo surgical procedures at an early age (usually when they are three months old) in order to relieve pressure on the brain and allow the head to grow. Several surgeries are generally needed to separate the abnormally fused skull bones. The prognosis varies from child to child. Additional surgeries may be performed to improve the patient's facial appearance and to separate fused fingers and toes.

Related Terms

Acrocephalosyndactyly, Acrocephalosyndactyly type 1, acrocephaly, ASC 1, autosomal dominant trait, craniosurgery, craniosynostosis, FGFR2 gene, fibroblast growth factor receptor 2, fibroblast growth factor receptor 2 gene, intellectual disabilities, midface hypoplasia, syndactyly, syndactylic oxycephaly.