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Noonan Syndrome

Medically Reviewed by Dr. Nithin Jayan, MBBS, DNB on Feb 21, 2020


What is Noonan Syndrome?

Noonan syndrome is a congenital disorder that affects different parts of the body.


Heart defects at birth, peculiar facial features, short stature, bleeding problems, peculiar facial features, learning problems characterize it.(1)

What are the Causes of Noonan Syndrome?

Noonan syndrome is caused by a defective gene that is usually inherited from one of the child's parents. The most common genetic mutations associated with Noonan syndrome include PTPN11, SOS1, RAF1 and KRAS.(2)

What are the Symptoms of Noonan Syndrome?

Symptoms of Noonan syndrome may include the following:


How do you Diagnose Noonan Syndrome?

The basis of diagnosing Noonan Syndrome depends on prenatal and genetic karyotyping studies.


How do you Treat Noonan Syndrome?

Management guidelines have been developed by an international guideline development group under the guidance of Noonan Syndrome Support Group (NSSG), and age-specific screening and testing is advised for certain problems.

Key recommendations of these guidelines cover all organ systems, which can be involved in the body:

References:

  1. Noonan Syndrome - (https://ghr.nlm.nih.gov/condition/noonan-syndrome)
  2. Noonan Syndrome - Rare Disease Database - (https://rarediseases.org/rare-diseases/noonan-syndrome/)
  3. About Noonan Syndrome - (https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome)
  4. Information About Noonan Syndrome - (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099190/)
  5. More Information About Noonan Syndrome - (https://www.ncbi.nlm.nih.gov/books/NBK1124/)
  6. What is Noonan Syndrome? - (https://www.aafp.org/afp/2014/0101/p37.html)

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