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Apert Syndrome

Apert syndrome is a rare genetic condition that is caused when the seams or sutures between the skull bone close earlier than normal affecting the shape of the head and face. Sutures are the specialized joints between skull bones that enlarge during the brain's normal growth. This condition is apparent at birth and can also affect your child's limbs. Because the condition is so rare - it is estimated to occur in one of 45,000 to 160,000 live births -- care requires very specialized treatment by a team of craniofacial specialists.

Symptoms

Symptoms of Apert syndrome usually become apparent at an early age. The pressure of continued brain growth distorts various bones of the skull and the face. The skull is forced into one of several characteristic shapes. Babies with Apert syndrome tend to have an abnormally shaped skull that is pointed at the top. The distortion of the skull also can cause widely spaced eyes and abnormal protrusion of the eyes, underdevelopment of facial features in the middle region of the face and/or a narrow roof of the mouth. The upper two-thirds of the face tends to be flat and in many cases, the middle of the face from the eyes to the upper jaw tends to be sunken or concave.

If the condition affects the hands and feet, it can cause a variety of effects that range in severity. These include: fusing of the thumb within the second to the fourth fingers; hands that look like paddles or mittens; and webbed toes or fingers with several of the fingers fused together.

What causes Apert syndrome?

The majority of Apert syndrome cases are triggered from a random mutation for unknown reasons. This means that the parents are not affected by the disease and your child has developed the condition as a result of a new mutation or defect in the fibroblast growth factor receptor 2 (FGFR2) gene. One risk factor for the syndrome includes increased paternal age.

Apert syndrome can also be an inherited autosomal dominant condition, which means that only one parent needs to have an abnormal gene to raise the risk of your child inheriting the disease. The child of a person with Apert syndrome has a 50 percent chance of passing the mutation on to his or her own children.

Treatment

Apert syndrome is a very complex condition that requires a coordinated approach to treatment by an experienced team of specialists and surgeons like those at Children's Hospital & Medical Center. Many of these children will undergo as many as 20 surgeries by the time they are young adults.

The first major craniofacial surgery usually involves cranial vault remodeling and orbital rim advancement that is performed between six to 12 months of age. If there are signs of increased pressure on the brain, the procedure may be performed sooner. This procedure involves reforming the shape of the skull to allow the brain additional room to grow.

During your child's childhood or teen years, surgery focuses on filling out the midface in a procedure called a leFort III or monobloc osteotomy. This is normally performed after the face is nearly finished growing to reduce the likelihood that the surgery will need to be repeated. If your child is suffering problems like severe obstructive sleep apnea, the surgery may need to be performed sooner to address this problem.

After your child is done growing, additional craniofacial procedures will likely be required. These include a procedure called LeFort I osteotomy to correctly position the upper teeth in line with the lower teeth. The lower jaw may also need to be aligned to correct an under bite and anterior open bite.

If Apert syndrome affects your child's hands, surgery will be required in the first year of life. If there is fusing of the thumbs, surgery will be performed at about six months of age to aid proper hand function and development. Multiple procedures will be required to separate the fingers on each hand. This is usually completed by two years of age but sometimes may be completed later.

Surgery to the feet is usually performed in only severe cases. For instance, surgery may be needed if the fusing of the toes causes malformation of the feet that affect your child's ability to walk normally.

 

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