The doctor 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 health care 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 doctor 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, Shor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 585.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.