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Noonan Syndrome

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  • Noonan syndrome

    Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage. The prevalence of Noonan syndrome is approx 1 in 1,000 or 184,101 out of 184,101,109 population. 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.

  • Noonan syndrome

    Growth hormone may be used to treat short stature associated with Noonan syndrome. Physiologic replacement for conditions of growth hormone deficiency. Recurrence risk for parents who do not appear to be affected or who have only some facial features of Noonan syndrome is 5%. Gonadal mosaicism may account for this increase over population risk. Prenatal testing for Noonan syndrome can be considered in the absence of a family history when cystic hygroma is seen on ultrasonography and karyotyping of amniocytes is normal.

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