WHAT IS APERT SYNDROME?
Apert syndrome is a rare craniofacial disorder that results from a mutation in a single gene passed on to a developing fetus. In most cases, this mutation happens spontaneously – meaning it does not occur as a result of something the mother or father did (or did not do) prior to or during pregnancy. If neither parent has Apert syndrome themselves, the chance of them having a child with this condition has been estimated at around 1 in 120,000.
Apert syndrome can be inherited, and is transmitted in what geneticists call an “autosomal dominant pattern.” This means that when a child grows up with Apert syndrome and chooses to have children, there is a 50:50 chance that the Apert trait will be passed on for each birth. In the very near future, it will be possible for individuals who have Apert syndrome, to elect to not pass on this trait. In order to ensure that this trait is not passed on, it will be necessary to undergo in-vitro fertilization selecting embryos that do not have the Apert substitution.
While the degree to which every person is affected by this condition can vary, the primary physical characteristics of Apert syndrome include:
premature fusion of one or multiple sutures in the skull
lower set ears
retrusion of the midface (from the brow bone to the upper jaw)
high-arched or cleft palate
fusion or webbing of finger bones in the hands and toe bones in the feet
There are a multitude of other medical conditions associated with Apert syndrome which are explained in greater detail HERE.
Treating Apert syndrome is complex and will require a multi-disciplinary approach. An individual with Apert syndrome will likely have a primary craniofacial surgeon/team who will provide comprehensive medical care and will collaborate with any specialists required based on their specific medical needs.