Apert syndrome

treatment

General: Early diagnosis and treatment is important to ensure that the child is able to meet his/her maximum potential for growth and development. The condition is treated with surgical procedures that separate the abnormally fused skull bones and allow the head to grow. Additional surgeries may be performed to improve the patient's facial appearance and to separate fused fingers and toes.
Physical therapy: Physical therapy may help people with syndactyly (webbing or complete joining of fingers and/or toes) improve 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: Occupational therapy may help people with syndactyly learn how to perform everyday tasks, such as feeding and dressing, despite their disabilities.
Hearing aids: Individuals who experience hearing loss may benefit from hearing aids. These battery-operated devices are available in three basic styles: behind-the-ear aids, in-the-ear aids, and canal hearing aids. Patients should talk to their doctor to determine the type of hearing aid that is best for them. A behind-the-ear device is used for mild to profound hearing loss. The device has a hard plastic case that is worn behind the ear and connected to a plastic ear mold that fits inside of the outer ear. In-the-ear hearing aids fit completely inside the outer ear, and they are used for mild to severe hearing loss. Canal hearing aids are smaller hearing aids that fit inside the patient's hearing canal. They are used for mild to moderately severe hearing loss.
Craniosurgery: Surgery is typically performed during infancy to separate the abnormally fused skull bones and allow the head to grow. It may also help improve the child's facial appearance. A team of healthcare professionals, including a craniofacial surgeon and brain surgeon (called a neurosurgeon), are involved in the procedure. During the surgery, an incision is made in the infant's scalp and the affected part of the skull is reshaped. Plate and screws, which may be made of material that absorbs over time, are sometimes used to hold the bones in place.
The child usually stays in the hospital for at least three days after surgery. Complications are rare. Some children may require a second surgery in the future. Patients with facial deformities may require additional surgeries to reshape their faces.
Ilizarov procedure: A surgical procedure, called the Ilizarov procedure, may be performed to improve the appearance of a sunken face (called midface hypoplasia). During surgery, the bones in the face are opened up and stimulated to re-grow. This procedure is typically done when the child is six to 11 years old.
Surgical separation of fingers and toes: If possible, fingers and toes that are webbed or fused together may be surgically separated. Although this procedure may improve a person's physical appearance, it does not improve the function of the hands or feet.
Other surgeries: Other surgeries may be necessary to correct bulging eyes, downward slant of the eyes, and upper facial deformities.

integrative therapies

Physical therapy: The goal of physical therapy is to improve mobility, restore function, reduce pain, and prevent further injury. A variety of techniques, including exercises, stretches, traction, electrical stimulation, and massage, are used during physical therapy sessions. Although physical therapy has not been studied as a possible treatment for people with Apert syndrome, it has been suggested that it may help people with syndactyly (webbing or complete joining of fingers and or toes) improve the function of their hands and feet.
Not all physical therapy programs are suited for everyone, and patients should discuss their medical histories with their qualified healthcare professionals before beginning any treatments. Based on the available literature, physical therapy appears generally safe when practiced by a qualified physical therapist. However, physical therapy may aggravate some pre-existing conditions. Persistent pain and fractures of unknown origin have been reported. Physical therapy may increase the duration of pain or cause limitation of motion. Pain and anxiety may occur during the rehabilitation of patients with burns. Both morning stiffness and bone erosion have been reported in the literature, although causality is unclear. Erectile dysfunction has also been reported. All therapies during pregnancy and breastfeeding should be discussed with a licensed obstetrician/gynecologist before initiation.

prevention

There is currently no known method of prevention against Apert syndrome.
Individuals who have Apert syndrome may meet with genetic counselors to learn more about the risks of having children with the disorder. If one parent has Apert syndrome, there is a 50% chance with each birth that a child will inherit the condition. However, nearly all cases of Apert syndrome occur randomly and are not inherited.
Prenatal screening and diagnostic tests may also be performed to determine if a mother's fetus has Apert syndrome. However, there are serious risks associated with prenatal testing, including miscarriage. Therefore, patients should discuss the potential health risks and benefits before making any health-related decisions.