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Understanding Apert Syndrome: Causes, Symptoms, and Treatment Options

Learn about Apert Syndrome, a rare genetic disorder characterized by craniofacial abnormalities such as webbed fingers and toes, along with potential complications like mental retardation and hearing loss. Discover the inheritance pattern, diagnostic methods, and support groups available for individuals with Apert Syndrome.

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Understanding Apert Syndrome: Causes, Symptoms, and Treatment Options

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  1. Aperts Syndrome (Acrocephalosyndactyly) By: Madison Weckerly

  2. Who Gets the Disorder? • When a baby is born, you will be able to diagnose it with this disease. How Common is this Disorder? • Only 1 out of every 160,000-200,000 babies will be born with Aperts.

  3. Symptoms • Mental Retardation • Hearing loss • Vision Loss • Low flexibility (Webbed fingers and toes.) • Ear infections

  4. Is it Deadly? • Most cases the life span will not be shortened and the disease is not deadly. • In rare cases someone could fall asleep and stop breathing. (Sleep apnea)

  5. Can You Be Tested? • Prenatal testing causes risks such as miscarriages. • When the baby is born they will be able to identify if the disease if present if previous tests were not performed. • Symptoms such as webbed fingers will be cured/treated.

  6. Inheritance Pattern • Autosomal Dominant Gene • Can be passed down or caused from a mutation • Which Chromosome? • Chromosome 10 is affected.

  7. Interesting Fact • Aperts occurs more often in children with older fathers. • Males and females are infected equally. • First surgery can be as early as 3 months old. • 20 operations could easily have taken place by the end of ones teenage years.

  8. Support Groups • Children's Craniofacial Association (www.ccakids.com)

  9. Works Cited • www.brighthub.com/science/genetics/articles/57852.aspx • Health.nytimes.com/health/guides/disease/apert-syndrome/overview.html • www.apert.org/apert.htm • www.goldbamboo.com/topic-t6808.htm • l

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