DefinitionApert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and face.
Causes, incidence, and risk factorsApert syndrome can be passed down through families (inherited). The syndrome is inherited as an autosomal dominant trait, which means that only one parent needs to pass on the faulty gene for a child to have the condition.Some cases may occur without a known family history.Apert syndrome is caused by mutations in a gene called fibroblast growth factor receptor 2. This gene defect causes some of the bony sutures of the skull to close too early, a condition called craniosynostosis.
SymptomsEarly closure of sutures between bones of the skull, noted by ridging along suturesFrequent ear infectionsFusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands"Hearing lossLarge or late-closing soft spot on a baby's skullPossible, slow intellectual development (varies from person to person)Prominent or bulging eyesSevere under-development of the mid-faceSkeletal (limb) abnormalitiesShort heightWebbing or fusion of the toesSeveral other syndromes can lead to a similar appearance of the face and head, but do not include the severe hand and foot problems of Apert syndrome. These similar syndromes include:Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)Crouzon disease (craniofacial dysostosis)Pfeiffer syndromeSaethre-Chotzen syndrome
Signs and testsThe 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.
TreatmentTreatment consists of surgery to correct abnormal bone growth. 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.
Support GroupsChildren's Craniofacial Association -- www.ccakids.com
Calling your health care providerCall your health care provider if you have a family history of Apert syndrome or you notice your baby's skull is not developing normally.
PreventionGenetic 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.
ReferencesKinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 592.