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Down syndrome

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Down syndrome is usually diagnosed at birth on the basis of the typical facial features, hypotonia, and single palmar crease. Down syndrome is the most common chromosomal disorder. An estimated 1 in 800 infants are born with Down syndrome. Down syndrome is also a common cause of miscarriage. Down syndrome is a genetic disorder that results in varying degrees of physical and mental retardation. The condition varies in severity, causing developmental problems that range from mild to severe. The disorder occurs as a result of extra genetic material.

Complications 

Nearly 50 percent of children with Down syndrome have some type of heart defect. These heart problems can be life-threatening and may require surgery in early infancy. These children may also be at increased risk of developing a variety of other health conditions, including gastrointestinal blockage, thyroid problems, hearing loss or poor vision. Other complications may include:

  • Leukemia. Young children with Down syndrome have 10 to 15 times the risk of developing leukemia as do children who don't have Down syndrome.

  • Infectious diseases. Children with Down syndrome are much more susceptible to infectious diseases because of abnormalities in their immune systems. Their risk of contracting pneumonia is 62 times as high as it is for children who don't have Down syndrome. Additionally, children with this disorder have a 12-fold chance of dying of an infectious disease.

  • Impaired intellectual development. Intellectual development is impaired for children with Down syndrome. The degree of mental retardation ranges from mild to moderate.

  • Dementia. Later in life, people with Down syndrome have a greatly increased risk of dementia. Symptoms of dementia often appear before age 40 for people with Down syndrome.

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