Noonan syndrome

Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. People with Noonan syndrome have distinctive facial features ...1

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Symptoms of Noonan syndrome

Noonan syndrome involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage. ...Source: NHGRI (NIH)2 ...

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Complications of Noonan syndrome

Problems such as heart defects can occasionally be severe and life-threatening. Some children may need emergency surgery to correct the problem as soon as possible, and most people with Noonan syndrome will need to have their heart monitored regularly ...3

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Causes of Noonan syndrome

Noonan syndrome is caused by changes in one of several autosomal dominant genes. A person who has Noonan syndrome may have inherited an altered (mutated) gene from one of his or her parents, or the gene change may be a ...4

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Causes List for Noonan syndrome

Some possible causes of Noonan syndrome or similar disorders may include:5

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Types of Noonan syndrome

At least eight different faulty genes have been linked to the condition so far. ...Source: NHS Choices UK6 ...

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Diagnosis of Noonan syndrome

How is Noonan syndrome diagnosed? The diagnosis of Noonan syndrome is based on the person's clinical symptoms and signs. The specialist examines the person looking for the specific features of Noonan syndrome. Individuals who have Noonan syndrome have normal chromosome ...7

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Genetics of Noonan syndrome

Is Noonan syndrome inherited? Noonan syndrome is inherited in families in an autosomal dominant pattern. This means that a person who has Noonan syndrome has one copy of an altered gene that causes the disorder. In about one-third to ...8

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Treatments: Noonan syndrome

What is the treatment for Noonan syndrome? Treatment for individuals who have Noonan syndrome is based on their particular symptoms. Heart problems are treated in the same way as they are for individuals in the general population. Early intervention programs ...9

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Research for Noonan syndrome

Information about your child: If your child has Noonan syndrome, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for better ways to ...10

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ noonan-syndrome
  2. Source: NHGRI (NIH): genome.gov/ 25521674/ learning-about-noonan-syndrome/ 
  3. Source: NHS Choices UK: nhs.uk/ conditions/ Noonan-syndrome/ 
  4. Source: NHGRI (NIH): genome.gov/ 25521674/ learning-about-noonan-syndrome/ 
  5. Source: Algorithmically Generated List
  6. Source: NHS Choices UK: nhs.uk/ conditions/ Noonan-syndrome/ 
  7. Source: NHGRI (NIH): genome.gov/ 25521674/ learning-about-noonan-syndrome/ 
  8. ibid.
  9. ibid.
  10. Source: NHS Choices UK: nhs.uk/ conditions/ Noonan-syndrome/ 

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