What is Apert syndrome?
Apert syndrome, also known as acrocephalosyndactyly, is a condition characterized by abnormalities of the skull, midface and limbs. The following diagnoses may be found in a child with Apert syndrome, but it is uncertain whether Apert syndrome causes the problems:
Who gets Apert syndrome?
Apert syndrome is a rare congenital condition that occurs in 1 of 100,000 newborn babies with a 1:1 male to female ratio. It can be inherited in an autosomal dominant fashion (from a parent with Apert syndrome) or be due to a fresh genetic mutation. A parent with Apert syndrome has a 50% chance of passing the condition to a child. The diagnosis is associated with increased paternal age. The mutation occurs on chromosome 10 involving the fibroblast growth factor receptor 2 (FGFR2) gene.
What are the symptoms of Apert syndrome?
The skull is affected by craniosynostosis, or premature fusion of the coronal ring. This results in an abnormal head shape. The appearance is one of a tall and short (from front to back) head. This is known as turribrachycephaly. The head is often large and the midface is flattened or retruded. As a result, the eyes may bulge out and the child may develop an underbite and an open bite. The hands and feet are affected by syndactyly, or webbing. Many children with Apert syndrome have variable degrees of mental, speech or developmental delays.
How is Apert syndrome diagnosed?
Examination of your child's skull, face and body will help guide your child's doctor towards a correct diagnosis. Your child will be seen by a geneticist at Children's Hospital Colorado to test whether he or she has the genetic mutation that causes Apert syndrome. A CT scan and/or an MRI will be used to diagnose the changes in the skull that are associated with Apert syndrome.
Apert syndrome treatment
A thorough evaluation by the craniofacial team will be undertaken. Your child may also see specialists in consultation to better diagnose and treat his or her particular condition(s). Together we will create a comprehensive treatment plan for your child.
The main concerns in the early treatment planning for children with Apert syndrome have to do with the brain, vision and breathing.
The premature fusion of multiple sutures in the skull may cause restriction on the growing brain. This constriction can cause increased intracranial pressure. In order to release the pressure, surgery on the skull may need to be undertaken within the first year. This may be in the form of cranial remodeling or distraction osteogenesis, depending on the specific needs of your child.
Surgeries to protect the eyes may be needed. These may include tarsorraphy of the lids (the eyelids are partially sewn together to narrow the opening) or fronto-orbital advancement of the bones of the forehead and upper eyes.
Some children with difficulty breathing will require a tracheostomy. As the child grows, it may be necessary to perform a LeFort III or Monobloc in order to improve the form and function of the face. These procedures can positively affect the ability to protect the eyes and breathe while sleeping. The timing of these surgeries, if needed, is dictated by the severity of your child's symptoms. In late adolescence, the child may require orthognathic surgery to improve facial balance and his or her bite.
Procedures to separate the fingers and thumbs of the hands are usually undertaken within the first year. The surgeries are typically staged and involve skin grafting. The feet only require surgery if the ability to walk is compromised by the syndactyly (webbed toes).
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