Apert Syndrome | Diagnosis & Treatments
How is Apert syndrome diagnosed?
Apert syndrome is usually diagnosed at birth by the physical signs, such as a tall skull and high, prominent forehead, underdeveloped upper jaw, prominent eyes, and fused fingers and/or toes. The fusion of the fingers and toes distinguishes Apert syndrome from other craniofacial disorders.
If Apert syndrome is suspected during pregnancy, your doctor may prescribe genetic testing to confirm the diagnosis.
After your child is born, a craniofacial surgeon, geneticist, neurosurgeon, and hand surgeon will evaluate your child. Their evaluation may include:
- x-rays
- computed tomography (CT) scan
- genetic testing, using a sample of blood or saliva
Treatment for Apert syndrome
Most children with Apert syndrome will require numerous operations into their adolescence and early adulthood. Your child may need surgeries to:
- reshape the skull
- improve the upper airway, which may be partly blocked
- correct eye problems
- address dental problems
- separate webbed fingers or toes
Our doctors have significant expertise in:
- surgical techniques to improve your child’s skull shape and allow the brain to have adequate space. These techniques include a minimally invasive option followed by helmet therapy, which some patients may qualify for if they are evaluated early in infancy.
- midfacial advancement (also known as Le Fort III distraction) to bring the middle part of your child’s face forward, opening up the airway and protecting the prominent eyes
- treating airway obstruction
- jaw surgery, combined with orthodontic therapy, to help correct the bite and improve jaw appearance and function
- complex operations to separate and straighten fingers and toes