An Overview of Apert Syndrome

Apert syndrome is a genetic condition that affects an estimated one in 65,000 to 88,000 newborns each year. Common traits in people with Apert syndrome include prematurely fused bones of the skull, fusion of some fingers and toes, among others. Although this condition causes varying degrees of both physical and intellectual disability, people with Apert syndrome can grow to enjoy full and productive lives.

If you or someone you know is expecting a baby with Apert syndrome or you are just looking to learn a little more about this condition, it is always helpful to equip yourself with the knowledge of the symptoms, causes, diagnosis, treatment, and coping.

Symptoms

Babies with Apert syndrome have certain skull bones that fuse together prematurely in utero (before birth) causing a condition known as craniosynostosis. This early fusion prevents the skull from growing like it should and affects the shape of the head and face. Common facial features in people with Apert syndrome include:

• Sunken appearance of the face
• Bulging and/or wide-set eyes
• Beaked nose
• Underdeveloped upper jaw
• Crowded teeth and other dental problems

Because the early fusion of the skull can cause problems for the developing brain, people with Apert syndrome may have cognitive disabilities as well. The range of developmental delay and intellectual disability varies greatly—it can be anywhere from normal to moderate.

Other characteristics and conditions that may occur in people with Apert syndrome include:

• Syndactyly (a minimum of three fingers on each hand and foot that may be webbed or fused)
• Polydactyly (less common, but there may be extra digits on the hands or feet)
• Hearing loss
• Excessive sweating (hyperhidrosis)
• Excessively oily skin and severe acne
• Patches of missing hair in the eyebrows
• Cleft palate
• Recurrent ear infections
• Fused bones in the neck (cervical vertebrae)
• Holes in the heart's ventricular wall
• Esophageal blockage
• Malpositioned anus
• Blockage of vagina
• Cryptorchidism (failure of testes to descend into the scrotal sac)
• Enlargement of kidneys due to blockage in the flow of urine

Causes

Apert syndrome is caused by a mutation in the FGFR2 gene. According to the United States National Institutes of Health, "This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet."

However, people with Apert syndrome can pass the genes on to their children. If this occurs, the disease is passed on as an autosomal dominant disorder.

Diagnosis

Doctors may suspect Apert syndrome before birth due to abnormal development of the skull. The official diagnosis is made through genetic testing, which is done by a blood test. This may be performed through amniocentesis while mom is still pregnant if Apert syndrome is suspected.

It is often identified on ultrasound due to the abnormally developing skull bones. Fetal MRI, however, can provide much more detail about the brain than ultrasound. Confirmation of the diagnosis is done through blood testing for the gene that causes it.

Treatment

There is no treatment that will "cure" Apert syndrome since it is a genetic disorder. However, there are many therapies, surgeries, and other interventions that can improve the quality of life for a person with Apert syndrome. The specific interventions necessary will depend on the individual and how they are affected.

Common surgeries for children with Apert syndrome include:

• Skull reshaping
• Frontal-orbital advancement (to increase space in the forehead and eye sockets)
• Mid-facial advancement
• Facial bi-partition to widen the upper jaw
• Osteotomy (expansion of upper and lower jaws)
• Rhinoplasty (plastic surgery of the nose)
• Genioplasty (plastic surgery of the chin or cheeks)
• Eyelid surgery
• Separation of fingers and/or toes
• Cardiac surgery for congenital heart defects

People with Apert syndrome may need to see special doctors, especially during childhood, to manage issues like cleft palate and hearing problems. They may also benefit from early intervention services such as speech therapy, occupational therapy, and physical therapy if they show signs of developmental delays.

Some people with Apert syndrome have intellectual disability or delays but many are able to catch up to their peers.

Coping

Having a child with a disability can be shocking or overwhelming for any parent or guardian. When a baby receives a prenatal diagnosis of Apert syndrome, be sure to talk to a physician about what to expect.

Genetic counseling is absolutely recommended because a genetic counselor can not only explain the causes of Apert syndrome, they can also advise about the chances of having additional children with Apert syndrome.

Gather information from credible sources and talk to other parents or guardians if possible. Although the diagnosis may seem overwhelming and frightening at first, you may learn that it is more manageable than initially anticipated.

Apert syndrome is a rare condition but there are multiple resources and support groups available throughout the United States and the world. With the internet and social media, it is easier than ever to connect to other families and find support. Look for craniofacial centers near you as well. The more resources you are able to find and plug into, the more comfortable you will feel.