About Apert Syndrome
Apert Syndrome is a rare genetic condition that causes abnormalities in the formation of a baby’s skull, hands, and feet. These abnormalities occur when the joints in a baby’s skull close too early (called craniosynostosis). This results in an atypical appearance of the face and skull, as well as a fusion of the fingers and toes (called syndactyly). In addition to these issues with physical appearance, the condition can also impact the development of a baby’s brain and other organs.
Apert Syndrome occurs in approximately one in 65,000 births. While there is no cure, early intervention surgery has proven effective for correcting physical features and promoting healthy childhood development.
Etiology
Apert Syndrome is a genetic mutation associated with the fibroblast growth factor receptor 2 (FGFR2) gene. This gene is responsible for skeletal development early on in pregnancy. When the FGFR2 gene mutates, it produces a chain effect that prematurely closes the sutures in a baby’s skull. As the baby’s brain grows, it creates pressure on these skull bones and distorts the head and face. This same mutation also causes the fusion of fingers and toes.
The inheritance pattern for Apert Syndrome is autosomal dominant. This means that a child has a 50% chance of inheriting the condition if one parent has the mutated gene. However, many cases occur without a family history of the condition.
Clinical Features
One of the most common features of Apert syndrome is an atypical appearance in the face or skull, fingers, and toes. This can include:
- Abnormally high forehead
- Increased distance between the eyes
- Prominence of the eyeballs
- Midface hypoplasia and reduced airway
- Narrow or cleft palate
- Abnormalities of fingers and toes
Due to pressure on the building skull, Apert syndrome can result in disrupted neurological and physical development, such as intellectual disabilities, hearing loss, and delayed motor skills. Other potential issues include sleep apnea, ear or sinus infections, and dental problems due to overcrowding of the teeth.
It’s important to remember that each patient is unique, and Apert syndrome affects everyone differently. The earlier a diagnosis is made, the better the child’s long-term outcomes will be.
Diagnosis
Because the physical features of Apert syndrome are so pronounced, doctors are often able to detect symptoms directly after birth. If a doctor suspects a baby has Apert syndrome, they will order a clinical examination to confirm or deny the diagnosis. This process includes an overview of family history and a physical exam to detect abnormalities. Depending on the conclusion, the doctor may also order X-rays or other imaging tests, like a CT scan or MRI, to confirm irregular bone formation. If a diagnosis is suspected, genetic testing can be used to confirm the existence of FGFR2 mutations. This is done through a quick blood draw.
Management and Treatment
Once a diagnosis of Apert syndrome is confirmed, your child’s physician will work with you to determine the best course of care. For many patients, this includes surgical interventions during infancy to correct any physical abnormalities, including:
- Cranial surgeries to correct skull and jaw shape
- Reconstructive surgeries of the hands and feet
Rehabilitation is extremely important following any corrective surgery. Even if your child is very young, their physician will likely prescribe physical therapy to encourage proper mobility and function. Occupational therapy will be prescribed to address any lingering physical, sensory, or cognitive problems. This is especially important if your child is experiencing challenges with their motor skills and physical development, including usage of the hands and feet.
Depending on the severity of hearing or speech impediments, your physician may prescribe aids to help your child as they develop. This includes hearing aids, speech therapy, and other modalities.
Prognosis
Apert syndrome is a highly variable disease. Some patients may experience long-term, life-limiting, or life-threatening consequences. In other cases, patients receiving timely interventions can achieve optimal outcomes and function during early childhood and adolescence.
At Rady Children’s, we emphasize an interdisciplinary approach to help patients with Apert syndrome live the best lives possible. Our Rady Children’s Specialists emphasize coordination between caregivers to treat the patient’s immediate needs and set up the entire family for short- and long-term success. This includes: coordinated efforts between the following specialists:
- Craniofacial, neurosurgical, and oral surgeons
- Physical and occupational therapists
- Nutritionists
- Speech pathologists
- Social workers
Contact Us
Long-term health monitoring is essential for children with Apert syndrome. Following diagnosis and treatment, your pediatrician will set up regular check-ups and testing to ensure that surgeries, rehabilitative care, or occupational therapies are proceeding normally.
A diagnosis of Apert syndrome can be scary, but it’s important to remember that you’re not alone. Our team at Rady Children’s is here to treat the condition while addressing any mental, emotional, and socioeconomic issues you may experience. This includes helping all family members as they learn to navigate the challenges associated with the condition.
Because of the associated physical issues, many cases of Apert syndrome will be detected by pediatricians following childbirth and months after. But if you suspect something is wrong, don’t wait. Early intervention is essential to correcting physical or developmental issues while setting your child and family up for short and long-term success.