Apert syndrome is a very rare genetic condition characterized by deformities of the head and limbs. These deformities present in many ways, all of which can affect health, function and lifestyle. A child with Apert syndrome needs advanced care from an interdisciplinary medical team that includes:
- plastic surgeons
- oral surgeons
- pediatric dentists
- speech pathologists
This diverse team of medical professionals is the heart of the Boston Children's Craniofacial Anomalies Program—dedicated to providing patients with Apert syndrome, and their families, with treatment, education, guidance and support.
To speak with a member of Boston Children's Craniofacial Anomalies Program about treating your child's Apert syndrome, please contact 617-355-6309.
Diagnosis of Apert Syndrome
Usually Apert syndrome presents itself in a few ways, such as:
craniosynostosis: premature fusion of the growth plates of the head, resulting in deformity of the head and possible increased pressure on the brain
midfacial hypoplasia: decreased growth of the middle part of the face, causing potential airway obstruction, sleep apnea and a concave facial profile
syndactyly: fusion of the fingers or toes
To make comprehensive diagnosis of Apert syndrome:
- A trained craniofacial surgeon and geneticist should evaluate your baby.
- In some cases, the doctor may order x-rays and/or a computed tomography (CT) scan to help confirm the diagnosis.
- Genetic testing can be done from a blood sample.
Some children diagnosed with Apert syndrome have developmental limitations. However, many patients lead lives very similar to their peers. Our craniofacial neuropsychologist will help evaluate your child and recommend any developmental or cognitive interventions that might be of benefit.
Treatment of Anomalies of the Face and Skull
To correct skull shapes of children with Apert syndrome, a procedure, known as a calvarial remodeling, or fronto-orbital advancement, is usually performed when the child is between 9 and 11 months old. This operation involves a plastic surgeon and a neurosurgeon who will work together to release the fused sutures and reshape the skull.
It is likely that when your child has completed growth he/she will need a second procedure called a Le Fort III advancement. This operation will help bring the middle part of the face forward and reduce the "flattened" appearance and help fix any airway issues that may remain. In some cases the airway issues will need to be treated sooner; in these children, distraction osteogenesis, (a surgical process used to reconstruct skeletal abnormalities) may be used to complete the Le Fort III advancement.
Treatment of Hand and Foot Issues
The hands of people with Apert syndrome can be classified into three categories (called Upton classification) based on the degree of soft tissue and skeletal involvement. For most Apert syndrome patients, multiple procedures and revisions will be required throughout childhood.
- In type I, the index, middle and ring fingers are fused, but the thumb is free. The palm of the hand is flat. This type is commonly referred to as “spade” hand.
- In type II, the thumb is fused to the index finder, in addition to the fusion of the three middle fingers. The palm of the hand is concave. This type is commonly referred to as “mitten” hand.
- In type III, all digits of the hand are fused, with one nail. The thumb of the hand is turned inward, and it is often difficult to tell the digits apart. This type is commonly referred to as “rosebud” hand.
Most of your child’s major fused finger separations will be completed by 2 years of age. If the thumb is involved, repair will begin at 3 to 6 months to obtain optimal function. If the thumb is not involved, the other fingers will be separated between 6 months and 2 years.
Toes that are fused have very little effect on a child’s ability to walk or run. Operations to separate them are not generally medically necessary. You may, however, want to have your child’s toes separated to improve the appearance of the feet to help him/her feel less self-conscious. This operation can be done at 5 to 7 years of age.
Treatment of Dental Issues
The abnormal shape of the face can also affect the position of the teeth and the “bite.” Many children have an underbite, as well as misaligned teeth. These children should visit a pediatric dentist when the teeth start to come in—no later than 2 to 3 years of age. It's recommended you seek out a pediatric dentist or orthodontist with experience in treating children with craniofacial disorders.