A genetic disease which may be inherited or may occur without a known family history. It is characterized by premature closure of cranial sutures (seams between skull bones), which results in a peaked head and an unusual facial appearance.
Causes, incidence, and risk factors
Apert syndrome is transmitted as an autosomal dominant trait (which means that only one parent needs to have the condition for a child to potentially be affected). Some cases also appear spontaneously without a family history. The condition is caused by mutations in a gene called fibroblast growth factor receptor 2. This mutation causes some of the bony sutures of the skull close prematurely (a process called craniosynostosis) which can cause asymmetric growth and give the head a distorted shape. The face is distinctive looking and there may be full-length webbing or fusion between the 2nd, 3rd and 4th fingers, as well as the toes. In addition, as the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function. There are several other syndromes which have a similar appearance and include craniosynostosis (premature suture fusion):
Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity) Crouzon disease (craniofacial dysostosis) Saethre-Chotzen syndrome Pfeiffer syndrome
Signs and tests
A skull X-ray which demonstrates premature closure and a clinical exam can confirm the diagnosis of craniosynostosis (premature fusion of skull sutures). Hand or foot X-rays are also very important to determine the extent of bone problems. A genetic test for mutations in the fibroblast growth factor receptor 2 gene can confirm the diagnosis of Apert syndrome. Hearing tests should also always be given.
Treatment
Treatment consists of surgery to correct the skull, mid-face and palate, after evaluation by a multispecialty cranio-facial surgery team at a children's medical center. To optimize treatment of hearing problems, see a hearing specialist.
Support groups
Apert Syndrome Pen Pals 401-454-4849
Expectations (prognosis)
The prognosis varies from child to child.
Complications
Other congenital abnormalities may exist and should be evaluated on an individual basis.
Calling your health care provider
Call your health care provider if you have a family history of Apert syndrome or you notice asymmetric growth of the skull in your baby.
Prevention
Genetic counseling may be of value to prospective parents. Prenatal diagnosis is available.