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Definition: Apert Syndrome (also known as Acrocephalosyndactyly Type 1) is a genetic disorder characterized by the premature fusion of certain skull bones, leading to an abnormal head shape and other deformities of the head, face, and hands. It is a rare disorder, occurring in roughly 1 in 65,000 live births.
1. What is Apert Syndrome?
Answer: Apert Syndrome (also known as Acrocephalosyndactyly Type 1) is a genetic disorder characterized by the premature fusion of certain skull bones, leading to an abnormal head shape and other deformities of the head, face, and hands.
2. What is the cause of Apert Syndrome?
Answer: Apert Syndrome is caused by a genetic mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, which is responsible for normal growth and development of the head and limbs.
3. How common is Apert Syndrome?
Answer: Apert Syndrome is a rare disorder, occurring in roughly 1 in 65,000 live births.
4. What are the symptoms of Apert Syndrome?
Answer: The symptoms of Apert Syndrome include an abnormal head shape, craniosynostosis (premature fusion of certain skull bones), hypertelorism (wide-set eyes), midfacial hypoplasia (underdevelopment of the midface), and syndactyly (webbing of the fingers and toes).
5. What are the long-term effects of Apert Syndrome?
Answer: The long-term effects of Apert Syndrome depend on the severity of the disorder but can include impaired vision, hearing loss, developmental delays, cognitive impairments, and speech and language delays.
6. How is Apert Syndrome diagnosed?
Answer: Apert Syndrome is typically diagnosed through physical examination and genetic testing.
7. What treatments are available for Apert Syndrome?
Answer: Treatment for Apert Syndrome typically includes surgery to correct craniofacial abnormalities, physical and occupational therapy, and orthodontic treatment to correct jaw and teeth misalignment.
8. Are there any support services available for those with Apert Syndrome?
Answer: Yes, there are many support services available for those with Apert Syndrome, including local support groups, online support communities, and professional counseling services.
9. What is the prognosis for someone with Apert Syndrome?
Answer: The prognosis for someone with Apert Syndrome depends on the severity of the disorder and the type of treatment received. With early diagnosis and treatment, many people with Apert Syndrome are able to lead a full and productive life.
10. Are there any genetic counseling options available for those at risk for Apert Syndrome?
Answer: Yes, there are genetic counseling options available for those at risk for Apert Syndrome, including pre- and post-test counseling, genetic testing, and family planning advice.