Pediatric Therapy Corner: Noonan Syndrome

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[Source: Big Leaps]


Noonan Syndrome (NS) is an autosomal dominant condition that many are not familiar with.  It is a genetic condition characterized by distinctive facial features, short stature, chest deformity, congenital heart defects, pulmonary stenosis, and other comorbidities.  Noonan Syndrome has an estimated prevalence of 1 in 1000 to 1 in 2500 live births.  The phenotype of NS changes with age, becoming milder in the adult life.

Until recently, diagnosis was based solely on clinical findings, but genetic mutations are identifiable in approximately 61% of the patients.

The eponym “Noonan syndrome” was adopted in recognition of Dr. Jacqueline Noonan, as she was the first to indicate that this condition occurred in both genders, was associated with normal chromosomes, included congenital heart defects, and could be familial.

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