Apert syndrome is a rare genetic condition that can cause the skull to grow abnormally. While in utero, a baby's skull can fuse prematurely, causing the face and head to change shape. Babies born with Apert syndrome may also have fingers or toes fused together. This condition is called syndactyly.
Apert syndrome is caused by a rare gene mutation that leads the bones in the skull to fuse together abnormally. In its regular form, this gene allows the skull to form, but when it mutates, the bones do not fuse together at the correct time in development. The mutated gene is called the fibroblast growth receptor gene 2. It tells the body to start forming bones when it is not time to do so.
Improperly formed skull bones can lead to a range of health problems affecting the whole body. Some symptoms of Apert syndrome include obstructive sleep apnea, heart problems, ear and sinus infections, learning disabilities, hearing loss, and gastrointestinal or urinary problems. Most people who have Apert syndrome are diagnosed either at birth or before birth.
Babies who are born with Apert syndrome have distinctive characteristics such as a sunken face, elongated forehead and face, wide-set eyes and eyelids that don’t close easily, an underdeveloped jaw, and webbed or fused fingers. Syndactyly, the latter symptom, often accompanies the characteristics noted in the head and faced. In most cases of Apert syndrome, at least three fingers or toes are fused together on each hand and foot.
Genetic testing helps doctors diagnose Apert syndrome. This will reveal if the fibroblast gene is mutated. In some cases, doctors can confirm or deny a diagnosis while a baby is still in utero. Your medical provider will perform a fetoscopy: an endoscope enters the uterus through the abdomen to allow the doctor to watch the baby and retrieve a blood or tissue sample for DNA analysis. An ultrasound may also be used to check for abnormalities in skull growth and growth of the hands and feet.
Treatment varies based on each case of Apert syndrome. There is no cure, but doctors can control symptoms using a variety of treatments. The doctor may prescribe eye drops to prevent the eyes from drying out. A CPAP machine can help keep airways open while the child is asleep. Antibiotics reduce the higher risk of sinus and ear infections.
Some complications of Apert syndrome include hearing problems, vision problems, short stature, learning disabilities, and difficulty breathing. The correct specialist can treat most of the symptoms associated with these complications.
Each case varies, so the surgical treatment options for Apert syndrome differ. Adding tubes to a child's ear may help alleviate ear infections. If a child has chronic sleep apnea, surgery can help open the airways. If skull repair surgery is required, there are three steps. First, the surgeon will release the fuses in the skull to help the bones in the skull form differently. A surgeon can perform this operation as young as eight months old. The second part of the surgery can be done between the ages of four and twelve and will help align the bones in the face properly. A third surgery can correct wide-set eyes; the eye sockets are brought closer together by removing a chunk of bone between them.
When a child is diagnosed with Apert syndrome, the parents may need to see a variety of specialists. In addition to a general pediatrician, an orthopedist can treat problems with the bones, muscles, and joints in the body. A hearing specialist will be able to help with any hearing problems. A cardiologist will monitor the heart to ensure continued health and to catch problems early. Finally, an ear, nose and throat specialist will monitor hearing and treat any infections that arise.
Surgery is the only way to ensure that the brain will grow properly in children with Apert syndrome. Research has shown that four in ten children with this condition reach a normal IQ level. The prognosis varies from case to case based on the severity of the condition. Children who don’t have heart problems can have a normal life expectancy.
There are many support groups available online for parents of children with the syndrome. One group called the Apert Syndrome Support Group aims to help families by supplying the information, support, and resources that are often needed. They have a large networking website that allows families across the country to connect and talk about their shared experiences.
This site offers information designed for educational purposes only. You should not rely on any information on this site as a substitute for professional medical advice, diagnosis, treatment, or as a substitute for, professional counseling care, advice, diagnosis, or treatment. If you have any concerns or questions about your health, you should always consult with a physician or other healthcare professional.