Apert syndrome, also known as acrocephalosyndactyly type 1 (ACS1), is a rare genetic disorder that occurs when the bones in the skull fuse together sooner than normal. This prevents the head from growing normally and affects the shape of the face. A child’s fingers and toes may also be webbed or fused together. In addition, a child may have intellectual disabilities, as well.
What are the symptoms of Apert syndrome?
Children with Apert syndrome often have heads that appear abnormally shaped. The middle of the face may have a sunken appearance, the eyes may be prominent or bulging, the eyes may be spaced far apart, the roof of the mouth may be narrower than normal and a cleft palate may be present. In many cases, some of the bones in the neck are also fused together. Another common symptom is severe acne on the arms and legs.
Children typically have webbed or fused fingers and toes. The number of digits that are partially or completely fused can vary. In general, at least three fingers/toes are fused together. In the most severe cases, all of the fingers and toes may be fused together.
Some patients may experience varying degrees of hearing loss. They may also experience intellectual disabilities that range from mild to severe. However, others are able to develop normal intellectual abilities. Other related complications can include ear infections, sleep apnea and vision problems.
How is Apert syndrome diagnosed?
Early diagnosis and treatment is important to ensure that your child is able to meet his or her maximum potential for growth and development. Apert syndrome may be diagnosed based on the patient’s physical signs and symptoms. Genetic testing may also be performed to confirm a diagnosis.
How is Apert syndrome treated?
Children with Apert syndrome typically need to undergo surgery at an early age (usually when they are six to nine months old) in order to relieve pressure on the brain and allow the head to grow. Several surgeries are generally needed to correct the associated head and facial deformities. If possible, fingers and toes that are webbed or fused together may be surgically separated.
Physical therapy may help children with syndactyly (webbing of fingers or toes) maximize the function of their hands and feet. A variety of techniques including exercises, stretches, traction, electrical stimulation and massage are used during physical therapy sessions. Occupational therapy also may help patients with syndactyly learn how to perform everyday tasks, such as feeding and dressing.