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Apert’s Syndrome

Apert’s Syndrome. Acrocephalosyndactyly. Sporadic craniostenosis with oxycephaly and syndactyle sometimes polydactyle hands and feet. (Often with blindness or visual impairment with proptosis and ophthalmoplegia .). By: Kyle Glick Swineheart Biology 4 th. How Does it Happen?.

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Apert’s Syndrome

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  1. Apert’s Syndrome Acrocephalosyndactyly Sporadic craniostenosis with oxycephaly and syndactyle sometimes polydactyle hands and feet. (Often with blindness or visual impairment with proptosis and ophthalmoplegia.) By: Kyle Glick Swineheart Biology 4th

  2. How Does it Happen? Apert’s Syndrome is a genetic mutation which occurs on the gene known as FGRF2 which lies on the 10th chromosome in the human body.

  3. Who gets Apert’s Syndrome? Apert’s syndrome occurs equally between gender and race, but it seems to be more common in children of older fathers. (Either by coincidence or as part of the disorder, almost all father’s of children with Apert’s seemed to be at least 30 years of age at the time of the mother’s fertility, but scientists don’t actually know for a fact that age IS a factor, or just a common trend.)

  4. Symptoms Fusion of the toes and/or fingers. Premature fusing of the bones in the skull. Possible mental disabilities can be affiliated with the disorder, but many who have it have a completely normal intelligence.

  5. How common is Apert’s Syndrome? Studies show that it occurs usually for 1 in somewhere between 60,000 and 200,000 live infants. 1 in 160,000 is most commonly referred to.

  6. Is Apert’s Syndrome Deadly or Life Threatening? No information found on whether it can be fatal, assuming though that it IS a possibility. Whether or not it is life threatening is determined by the severness of the disorder, and areas affected.

  7. How is it Recognized? Usually Apert’s is classified when an infant is born, as the facial deformities and/or deformed hands and feet will be noticeable at birth. Usually X-Rays are used to diagnose a child as having Apert’s Syndrome, and not another similar disorder.

  8. Is it treatable? Yes, but often not entirely. A team of many different surgeons who specialize in different facial deformities can work to… somewhat rebuild the cranium of the patient. Often the fingers/toes are “split apart” surgically and over time can be somewhat usable.

  9. Support Groups Daily Strength - (www.dailystrength.org/c/Apert-Syndrome/support-group) Apert International, Inc. – (www.apert-international.org/)

  10. Interesting Facts People with Apert’s Syndrome, even with the 1 in 160,000 average of getting the disorder, have a 50% chance of their children having the genetic mutation. It is often caused by the development of the brain while the baby is in the mothers womb. When Apert’s Syndrome causes fusion of fingers/toes, there is often 1 large nail between the area where the fingers have fused together.

  11. A Picture of an Infant With Apert’s Syndrome As you can see, much of this section of the face is improperly developed. Also the fingers on the hand are stuck together.

  12. Works Cited http://www.hopeforkids.com/site/c.lpISKYOvFkG/b.4205009/k.997E/Apert_Syndrome.htm http://exalter.net/apert/images/aj_hand.jpg http://www.apert.org/apert.htm http://www.medicalfaq.net/what_is_apert_syndrome_/ta-91222 http://children.webmd.com/apert-syndrome-11050

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