Apert Syndrome

 Apert Syndrome or Acrocephalosyndactyly is a is a rare mutation on a single gene. This mutation is normally responsible for guiding bones to join together at the right time during development. 

Apert Syndrome is a result of a mutation in a gene called FGRF2 (Fibroblast Growth Factor Receptor 2) on chromosome 10. A child only needs to receive the mutated gene from one parent to be affected by the disorder. Most Apert Syndrome cases occur infrequently as a result of a new mutation, instead of being passed down from a parent. Although studies have noticed a higher occurrence in children with older fathers, Apert Syndrome can occur in children born to parents of all ages.

Apert Syndrome comes from a French Physician, Eugène Apert, who described the syndrome acrocephalosyndactylia in 1906.

Some symptoms of Apert Syndrome could be a longer looking head with a high forehead, wide-set, bulging eyes often with poorly closing eyelids, and also a sunken  middle face. Other symptoms that result from abnormal skull growth could be poor intellectual development, obstructive sleep apnea (breathing becomes very shallow or may even stop breathing while you are sleeping.), also repetitive ear or sinus infections, and loss of hearing. 

There is no known cure for Apert Syndrome, surgery to correct the abnormal connections
 between bones, is the main treatment. On average, children with Apert Syndrome will go through about 20 operations by time they are out of their teens. In general, surgery for children with Apert Syndrome will take place in 3 steps: Step 1. Release of the skull bone fusion- Surgeon separates the abnormally fused skull bones and partially rearranges some of them. Surgery is usually performed when child is 6-8 months. Step 2. Midface Advancement- As a child with Apert Syndrome grows, the facial bones become misaligned. A surgeon cuts in the jaw and cheeks and brings them forward to a more normal position. Surgery could take place from age 4-12.  Step 3. Wide-set eyes (Hypertelorism correction). Surgeon moves a wedge of bone from the skull between the eyes. Then surgeon will bring the eye sockets closer together and may adjust the jaw too.  Other surgeries may be beneficial for certain children with Apert syndrome, depending on their individual pattern of facial bone formation problems.

AboutFace is a website that is for anyone and everyone living with a facial difference, that includes those affected directly or indirectly. Whether it's been with someone from birth or is an acquired difference, they know the circumstances people with the facial differences face will be unique. However their mission since day one has remained the same. AboutFace is there to provide people with facial differences support. Also, they give people the courage and confidence they need to make their day, no different to anyone else's because there should be no difference living with a facial difference.