Abnormal skull development is the main characteristic of Apert syndrome. The genetic condition is a birth defect that results in a distorted shape of the face and head. While there is no cure, corrective surgery sometimes minimizes associated difficulties and health issues.
A rare genetic mutation is the cause of Apert syndrome. Affecting one in 65,000 newborns, the condition stems from abnormal expression of the gene responsible for dictating how bones of the skull form. There is no known reason why the mutation occurs.
Here are some of the symptoms for Apert Syndrome.
Apert Syndrome is the result of a mutation to a single gene called Fibroblast Growth Factor Receptor 2. This gene is usually responsible for ensuring that the bones form together at the proper time, but it does not function properly for someone with Apert Syndrome. At this point in time, it’s not entirely clear what causes that mutation to occur in the first place.
In nearly all reported cases of Apert Syndrome, the disorder appears to be caused by one of two specific mutations to the FGFR2 gene. These mutations are designated Ser252Trp and Pro253Arg.
In a large majority of cases (about 95% of all carriers), the mutation appears to happen randomly. There are some medical reports that suggest advanced age on the father’s side may increase the possibility of the mutation, but this is currently unproven.
In some rare cases, Apert Syndrome can be passed down as an inherited trait. Apert Syndrome is an autosomal dominant trait, meaning it only takes a single copy to take control of the cell. The risk of passing the mutation down from an affected parent to their offspring is 50% for each pregnancy, regardless of the child’s gender.
Diagnosis is made at birth based on skull appearance. Genetic tests may be performed to rule out other birth defects.
Surgery is the only treatment for Apert syndrome. Surgery typically involves three separate procedures:
Separation of the fused bones of the skull (at 6-8 months of age).
Forward advancement of cheek and jaw bones to correct misalignment (around ages 4-12).
A bone between the eyes is removed to correct “wide-set” eyes and the sockets are moved closer together and the jaw may be adjusted (no specific age).
Related health issues are often managed with non-surgical treatments. Eye drying is prevented with drops and eye ointment. A machine connected to a mask may be worn at night to keep airways open and antibiotics minimize sinus infections.
Apert syndrome may result in a series of related health issues, including hearing loss, chronic sinus infections, and sleep apnea. Poor intellectual development and heart, hearing, and digestive problems may also be experienced. Some children with Apert are also born with fused (“webbed”) hands and feet. Additional surgeries may be performed based on the presented deformities.
Because Apert Syndrome appears to be a random mutation with no known cause, prevention of the disorder is currently not possible. There are prenatal screenings available that can help detect the syndrome before birth, but there are serious risks involved. Adults with the syndrome are encouraged to see a genetic counselor to learn more about the risk of passing it down to their children.
While nothing can be done to prevent Apert Syndrome before it happens, with early detection and treatment, it’s possible for someone with the disorder to live a largely normal life.