Apert Syndrome

Apert Syndrome

Apert syndrome is classified as a craniofacial/limb anomaly that causes the abnormal growth of different bones in the body. Most often the affected bones include the skull, midface, hands and feet.

Apert syndrome is an inherited birth defect, this means you or someone in your family probably has the syndrome. Even if you consulted a geneticist before pregnancy, knowing that your child has inherited the syndrome can still feel overwhelming when considering the complications and treatment process your child may face. Our team of nationally-renowned surgeons and interdisciplinary specialists at the Yale Craniofacial Program will make sure you understand and feel comfortable with your child’s treatment plan. We work to provide the best-possible care for your baby and to provide your family with the utmost care and support.

If your child has Apert syndrome, he or she may also have fused skin of the hands and feet, which is known as syndactyly. Most commonly, the second, third and fourth digits are fused. Other congenital anomalies that are often common in children with Apert syndrome are often found in:

  • The central nervous system
  • The gastrointestinal tract
  • The respiratory system
  • The heart
  • The genitourinary organs and structures

Some children may have fusion in the cervical (neck) vertebra. Before any surgery, children with Apert syndrome must have a radiographic study of the spine. Intelligence of individuals affected with Apert syndrome is normal to highly varying degrees of mental deficiency. Early intervention and proper education can reduce the risk for developmental delays. 

Causes of Apert Syndrome

Apert syndrome is an autosomal dominant condition, which means only one parent needs to produce the abnormal gene, allowing a 50 percent chance that the condition will be passed onto the child.

If your child has been born with Apert syndrome most often there is no family history of the syndrome. It is important for you to know that there was nothing that the mother did during the pregnancy to have caused this condition. Often parents feel guilty when their children are born with defects that do not have a history of running in the family. But the vast majority of Apert syndrome cases occur sporadically, which are believed to be the result of a new genetic mutation. Studies have shown this mutation shows up higher in situations where the father is older, but it can occur in children with parents of any age. 

If you have had one child with Apert Syndrome, it is natural to wonder if you will have another child with the same condition. If Apert syndrome is inherited, there is a 50 percent chance your next child may have the condition as well. If the syndrome has resulted from a genetic mutation, the chances your next child will have the condition is minimal. We offer prenatal diagnostic testing to determine if your child is carrying the gene. 

A common question parents ask is if their child is at risk for passing the syndrome on to their children. Your child has a 50 percent chance that each of their children will have Apert syndrome.

Symptoms of Apert Syndrome

If your child has Apert syndrome, early detection can be crucial in beginning early treatment. Some of the most prominent symptoms of Apert syndrome are associated with craniosynostosis, or the early fusion of the sutures (joints) of the skull. Some of these features may include a high, prominent forehead with a flat posterior skull, a flat or concave face, and shallow eye sockets. 

A major attribute of the Apert syndrome is the fusion of skin between the digits of the hands and feet. The thumb and big toe may be broad and malformed. 

Other symptoms of Apert syndrome could include:

  • Unruly hair
  • Acne (adolescence)
  • Cleft palate
  • Hearing loss or deafness
  • Speech development delays
  • Behavioral issues
  • Headaches
  • Sleepiness
  • Trouble breathing
  • Vision problems
  • Earaches
  • Widely spaced eyes
  • Increased sweating, especially at night
  • Small nose

This list should be used as a guideline. Not every symptom is included. If your child has one or more of these symptoms, it does not mean that he or she has Apert syndrome. If you are concerned that your child might have Apert syndrome, please make an appointment with your child's doctor. 

Using 3D CT imaging, we can provide a diagnosis more quickly and with more accuracy than ever before. Traditional CT scans provide black and white, one-dimensional scans, while advanced 3D imaging technology provides colored, multidimensional images that allow us to see the specific characteristics of your child’s craniofacial differences. In this way, we can better understand how your child’s birth defect will specifically impact his or her health and development. Prenatal genetic testing is possible when Apert syndrome is suspected.

Treatments for Apert Syndrome

The first question you may ask as a parent is, “How can I help my child?” At the Yale Craniofacial Program, treatments for Apert syndrome involve interdisciplinary specialists to help your child through every step of the process. Your child benefit from multiple surgeries from infancy through early adulthood; in general, the earlier he or she begins treatment, the better the outcome. 

Treatments of Apert syndrome may include:

  • Surgery to protect the cornea and vision
  • Intubation to open upper airway during the neonatal period
  • A tracheotomy may be needed for severe cases of sleep apnea
  • Ventilation tubes for chronic earaches
  • Cranial surgery to open prematurely fused sutures and to reshape the skull and relieve increasing pressure on the brain
  • Orbital surgery to enlarge the eye sockets to reduce bulging of the eyes
  • Nasal surgery to open nasal passageways
  • Midfacial surgery to improve appearance of the midface, expand the inferior orbit to expand the airways, and to establish a normal dentoskeletal relationship.
  • Mandibular, or jaw, surgery for both appearance and function.
  • Surgical separation of fingers and toes 
During the planning stage, we use the most advanced 3D imaging techniques for a complete understanding of your child’s specific condition, and how your child’s soft and bony tissues are affected. By gathering accurate data about your child’s craniofacial differences, we can:
  • Simulate the outcome of proposed surgical plans and adjust any discrepancies before surgery
  • Follow and monitor your child’s condition during the post-surgical healing process
  • Monitor your child’s long-term development 
At the Yale Craniofacial Program, your child will receive care from some of the top surgeons and specialists in the world. We care deeply about your child’s immediate and future emotional and physical well-being.