Apert Syndrome

Gerasimoula and Leanna

What is Apert Syndrome?

It is a genetic disorder characterized by the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together.

How is it inherited?


  • It is found on chromosome number 10.
  • -It can be passed down through families as a dominant trait; only one parent needs to pass on the gene for the child to have that condition.
  • It occurs 1 per 160,000 to 200,000 live births. If you have Apert syndrome, you have a 50% chance of your child having this condition.

Tests and Treatment

Tests: To diagnose this condition, the doctor will examine the child's skull carefully. The shape will help the doctor tell whether any sutures have fused.The child's facial features will help the doctor determine whether they have Apert syndrome or another condition.A child may need X-rays of their spine, arms, hands, legs, and feet, to confirm the diagnosis.The doctor could recommend genetic tests that show whether your child has a mutation that causes Apert syndrome.

Treatment: Most times, the first major operation is cranial vault (remodeling and orbital rim advancement). It is done at 9 to 11 months of age. The procedure may be done sooner if there are signs of increased pressure on the brain.In this procedure, the skull is reshaped to give the brain more room to grow and to normalize the appearance of the skull and the upper part of the orbits.Waiting until 9 to 11 months of age leaves the bone still malleable enough to be reshaped while being solid enough to hold its new shape. There is no cure for this disorder.

Symptoms

  • Babies with Apert syndrome have an abnormally shaped skull that tends to be tall, short from front to back and wide with a flat forehead and brow.
  • These changes result specialized joints between skull bones that expand during normal brain growth.
  • When the sutures fuse prematurely, the growing brain drives the growth of the skull changing the skull's shape.
  • The upper two-thirds of the face are flat in babies with Apert syndrome.
  • In most cases, the midface appears to be sunken or concave. Because of the deficiency in the upper jaw, there is also an underbite.
  • These children also tend to have an anterior open bite; their teeth don't come together in the front.

Current reaserch and studies

In a study published in 2007, in the open-access journal PLoS Biology, Jian Qin, Norman Arnheim and colleagues from University of Southern California shows evidence that suggests the syndrome is perpetuated because the cells carrying the mutation in the testes, and that give rise to sperm, out-replicate normal cells. They have shown that the single base-pair mutation responsible for over 60% of people that has Apert Syndrome occurs with such high frequency not because the relevant gene sits as a mutation, but because mutant cells reproduce more frequently then normal cells.
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