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What

Apert syndrome is a rare inherited condition in which the bones in the skull, hands, and feet fuse prematurely, beginning early in pregnancy. As a result, the bones of the head and face grow unevenly, causing the head and face to look out of shape and distorted. The bones of the fingers and toes also have become fused and the skin does not separate, thus webbing them together.

Who

Apert syndrome is a condition that occurs in both males and females and is present at birth. The incidence is approximately 1 baby for every 100,000 babies born will have Apert syndrome. .

Signs and Symptoms

The skull is composed of several bones that are held together by elastic- like cartilage at intersections called sutures. The head needs to expand via these suture lines to allow room for the rapidly developing brain. In babies with Apert syndrome, the cranial sutures between the skull bones close too early. This feature can be determined by the presence of ridges along those suture lines. The premature fusion of skull bones leads to many facial abnormalities. The soft spot on the baby’s skull may be larger and close later than usual. The bones of the upper and lower third of the face grow normally, however the middle part of the face grows slowly, leading to a concave or sunken looking face. Because the bones around the eyes are malformed, the eyes appear to be set wide apart and may bulge from the sockets. Also, the bridge of the nose may look sunken in. These boney abnormalities which can affect the normal anatomy of the eyes, ears, nose, and mouth can lead to visual deficits, hearing loss, frequent ear infections, noisy breathing, sleep apnea and dental problems. The brain can be greatly affected if the bones do not expand and allow room for the brain to grow thus causing delayed intellectual development. In addition to facial changes, the bones in the hands and feet are affected. Usually, the 2nd, 3rd, and 4th fingers (and toes) are fused or webbed together (a condition called syndactyly). This condition greatly affects the flexibility and function of the hands and occasionally the feet.

Possible Causes

Apert syndrome is an autosomal dominant genetic condition, which means that a child will develop the condition if he or she inherits one copy of an altered gene from either one of the parents. However, Apert syndrome can also occur spontaneously and without any previous person in the family having Apert syndrome. The altered gene responsible for Apert syndrome is called fibroblast growth factor receptor 2 (FGFR2). The change in the FGFR2 gene causes the bone growth abnormalities.

Diagnosis

The diagnosis for Apert syndrome involves physical examination, X-rays, and genetic testing. The physical exam is important in determining if there are any prematurely fused cranial sutures, abnormally shaped head and face, and fusion of the fingers and toes. The eyes and ears are also examined to assess for normal vision and hearing. X-rays of the skull can reveal open or fused sutures, and x-rays of the hands and feet can show missing or malformed bones and joints. Serial x-rays are taken to assess the severity of the bone problems and to determine treatment. Lastly, genetic testing for the changes in the FGFR2 gene can help confirm the diagnosis of Apert syndrome.

Treatment

Treatment for children with Apert syndrome is best conducted by a craniofacial team of specialists. This team usually consists of orthopedic, plastic and brain surgeons along with eye-ear-nose-throat specialists, audiologists, speech pathologists, dentists and pediatricians. Initial treatment primarily involves surgery to correct the skull and face abnormalities. Starting in infancy, children with Apert syndrome can undergo surgery to separate the prematurely fused skull bones in order to allow the head to grow normally in shape and size. Mid-face abnormalities may also be corrected in a similar surgery with the facial bones. Also, some children may need to undergo surgery to separate the fused finger bones. Because fingers usually do not function well, adaptations created by occupational therapists are extremely useful at home and school. Modifications should be allowed at school for use of assistive devices and computers. Lastly, children with Apert syndrome will need to follow-up with specialists to treat their visual, hearing, and speech problems, dental issues, and any other concerns that come up.

Prognosis

The prognosis for children with Apert syndrome is highly variable and depends on the severity of the child’s condition and the success of surgical interventions.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Apert Syndrome
Easy to understand website with information on surgical treatment.

Children s Craniofacial Association: A Guide to Understanding Apert Syndrome
Excellent parent friendly page with details of the team of specialists caring for a child with Apert.

Gnetics Home Reference: Your Guide to Understanding genetic Conditions

Google Search for Apert Syndrome

References and Sources

Behrman R, Kliegman R and Jenson H (2002). Nelson Textbook of Pediatrics. 16th Ed, W.B. Saunder Co p 396-397 www.nlm.nih.gov/medlineplus/ency/article/001581.htm