Apert Syndrome - Pictures, Life Expectancy, Symptoms, Treatment, Causes

This is a rare autosomal dominant disorder that happens in one per one hundred sixty thousand to two hundred thousand births. Apert syndrome is name for Eugene Apert, French physician in 1906. It is a condition that involves distortions of the face and head and the webbing of the feet and hands. It is characterized by a varied number of toes and fingers that are fused together called "syndactyly" and the premature fusion of certain bones in the skull called "craniosynotosis".

The main symptoms of Apert syndrome are produced by the abnormal facial and skull growth which can include:

• The head is long with a forehead that is high.
• Bulging eyes that are wide-set and are often accompanied by eyelids that close poorly.
• The middle face can be sunken.
• Beaked nose

Symptoms that can result from skull growth that is abnormal

• In some children with this syndrome they may have poor intellectual development with cognitive abilities that can range from normal to moderate.
• Repeated ear or sinus infections.
• Loss of hearing
• Obstructive sleep apnea and noisy breathing because of the smaller airway passages and smaller nose.

They could also have:

• Mitten or web-like feet or hands with a minimum of three digits on each foot and hand affected.
• Urinary system problems
• Gastrointestinal problems
• Heart problems
• Heavy sweating called hyperhidrosis especially during sleep.
• Oily skin with severe acne
• The eyebrows could have patches of missing hair.
• Vision problems due to shallow eye sockets and the eye muscles are not in balance.
• Dental problems and crowded teeth because of the underdeveloped upper jaw.
• Cleft palate which happens to approximately thirty percent of those with this syndrome.

This is a genetic disorder as the result of a rare mutation of a single gene. The gene that is affected is usually responsible for guiding the bones to join together properly at the right time during fetal development. In many of the cases it appears that this gene mutation happens randomly and results from new mutations in the gene but it is an "autosomal dominant pattern" that is inherited. What this means is that a single copy of the gene that has been altered, or mutated, in each cell is enough to cause Apert syndrome. This syndrome can happen in families that have no history of Apert syndrome but if a person has this syndrome they can pass it along to the next generation.

One thing to note is that if a mother has a child with Apert syndrome, it is not something she did or did not do during her pregnancy. Usually the mutation of this gene happens early in their pregnancy.

There is no known cure for Apert syndrome but there are surgeries that can be done to help correct the abnormal connections between the bones. Normally surgery is the main treatment physicians choose.

When a physician decides to do surgery, it is done in three steps which are:

1. The first step is to release the skull bone fusion called "craniosynostosis release". This will usually be done when the child is between six and eight months of age. During this step the surgeon will separate the skull bones that are abnormally fused and then will partially rearrange the bones.
2. Next the surgeon will do a "midface advancement" and is can be done anytime when the child is between four and twelve years old. When a child who has this syndrome begins to grow their facial bones will once again become misaligned. During this step of surgery the surgeon will cut the bones in their cheeks and jaw, bringing them forward into a position that is more normal. If this is done at a young age the surgeon may need to do more corrective surgery as the child gets older.
3. During the final step the surgeon will do the correction of the wide-set eyes called "hypertelorism correction". The surgeon will remove a wedge of bone in their skull between their eyes and then brings the eye sockets closer together. The jaw may also be adjusted at this time.

Other treatments that may be used

• During the day the physician may have the child use eye drops and at night use eye ointment to help prevent drying of the eyes that can happen with this syndrome
• Because the child can have obstructive sleep apnea they may have to use a "continuous positive airway pressure" (CPAP) machine and wear a mask at night that is attached to the machine. While wearing this mask the machine will deliver pressure in order to help keep their airway open at night.
• Due to the possible reoccurring sinus and ear infections caused by bacteria, the physician may prescribe antibiotics.
• For children with severe obstructive sleep apnea the surgeon may have to place a breathing tube in their neck called a "tracheotomy".
• The physician may have to surgically put tubes in their ears called "myringotomy", especially for the children who have reoccurring ear infections,
• Plastic surgery on their chin, cheek, or nose
• Separation of their toes and fingers.

The life expectancy for a child with Apert syndrome varies between each child. If they do not have any heart problems and survive past childhood will most likely have a near-normal to normal life expectancy. Because of the advances in follow-up care and techniques in surgery the life expectancy is improving.