The health care provider will perform a physical exam. Hand, foot, and skull x-rays will be done. Hearing tests should always be performed.
Genetic testing can confirm the diagnosis of Apert syndrome.
Treatment consists of surgery to correct abnormal bone growth of the skull, as well as for the fusion of the fingers and toes. Children with this disorder should be examined by a specialized craniofacial surgery team at a children's medical center.
A hearing specialist should be consulted if there are hearing problems.
Call your provider if you have a family history of Apert syndrome or you notice your baby's skull is not developing normally.
Genetic counseling may be helpful if you have a family history of this disorder and are planning to become pregnant. Your provider can test your baby for this disease during pregnancy.
Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 591.
Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related craniosynostosis syndromes. GeneReviews. Seattle, WA: University of Washington; 2011:11. PMID: 20301628 www.ncbi.nlm.nih.gov/pubmed/20301628. Accessed August 1, 2015.
Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.