Autosomal Dominant Genetic Disorders
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- Q How can Treacher Collins syndrome (TCS) be prevented?
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Because some cases of Treacher Collins syndrome (TCS) occur randomly with no family history of the disorder, there is no known way to prevent it. Early diagnosis and prompt treatment is important in order to prevent serious complications, such as... Full Answer
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- Q How is Treacher Collins syndrome (TCS) diagnosed?
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Clinical evaluation: Treacher Collins syndrome (TCS) is diagnosed after a clinical evaluation. A doctor looks for the characteristic signs and symptoms of the disorder, such as ear defects, downward-slanting eyes, eyelid abnormalities, underdeveloped... Full Answer
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- Q What are the symptoms of Treacher Collins syndrome (TCS)?
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General: Symptoms of Treacher Collins syndrome (TCS) vary, even among family members, from barely noticeable to severe. Patients with more severe symptoms are more likely to experience complications from the disorder.In general, individuals with TCS may... Full Answer
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- Q What causes Treacher Collins syndrome (TCS)?
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Genetic mutation: Treacher Collins syndrome (TCS) occurs when a person is born with a mutated or abnormal Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene. Normally, this gene provides the body with instructions on how to produce a protein called... Full Answer
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- Q What increases my risk for Treacher Collins syndrome (TCS)?
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A family history of Treacher Collins syndrome (TCS) increases the risk of having a child with the disorder. TCS can be passed down among family members as an autosomal dominant disorder. This means that if one parent has the disorder, there is a 50% risk... Full Answer
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- Q What are complications of Williams syndrome?
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Diabetes: Most people with Williams syndrome have diabetes or pre-diabetes by age 30. Pre-diabetes occurs when a person's blood sugar is higher than normal, but not quite high enough to be diagnosed as diabetes.Hearing loss: Most people with Williams... Full Answer
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- Q How does osteogenesis imperfecta affect the body?
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The effects of osteogenesis imperfecta (OI) range from mild to severe and often depend on which type of OI a person has. Type 1 is the most common and the mildest form of OI. Types 2, 3, 7, and 8 generally present more severe affects, while people with... Full Answer
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- Q What is Waardenburg syndrome (WS)?
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Waardenburg syndrome (WS) is an inherited disorder that causes varying degrees of hearing loss and color changes in the skin, hair, and eyes. People with WS typically have pale white skin. Some people may have patches of white hair, while others may... Full Answer
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- Q How can Waardenburg syndrome (WS) be prevented?
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There is currently no known method of prevention of Waardenburg syndrome (WS). However, individuals who have WS may meet with a genetic counselor to learn more about the risks of having a child with the disorder.Individuals who have a family history of... Full Answer
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- Q What are complications of Waardenburg syndrome (WS)?
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People with type 4 WS who have Hirschsprung's disease may experience constipation or have difficulty absorbing nutrients from food. This is because the nerves in the colon have not formed properly in these patients. In severe cases, a newborn child may... Full Answer
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