Noonan Syndrome Questions & Answers

Updated: Apr 30, 2018
  • Author: Margaret M McGovern, MD, PhD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Questions & Answers

Overview

What is Noonan syndrome?

What is the pathophysiology of Noonan syndrome?

What is the prevalence of Noonan syndrome in the US?

What is the global prevalence of Noonan syndrome?

What is the mortality and morbidity associated with Noonan syndrome?

What is the racial predilection of Noonan syndrome?

What is the sexual predilection of Noonan syndrome?

How does age affect the facial phenotype of Noonan syndrome?

Presentation

Which clinical history findings are characteristic of Noonan syndrome?

How does Noonan syndrome affect stature?

What are the characteristic facial features of Noonan syndrome?

Which ocular findings are characteristic of Noonan syndrome?

Which auditory findings are characteristic of Noonan syndrome?

Which chest abnormalities are associated with Noonan syndrome?

Which cardiovascular findings are characteristic of Noonan syndrome?

How prevalent is hepatosplenomegaly in Noonan syndrome?

Which genitourinary findings are characteristic of Noonan syndrome?

Which skeletomuscular findings are characteristic of Noonan syndrome?

Which dermatologic findings are characteristic of Noonan syndrome?

Which neurologic findings are characteristic of Noonan syndrome?

What causes Noonan syndrome?

Which genetic mutations cause Noonan syndrome?

DDX

Which conditions should be included in the differential diagnoses of Noonan syndrome?

What are the differential diagnoses for Noonan Syndrome?

Workup

How is Noonan syndrome diagnosed?

What is the role of lab testing in the workup of Noonan syndrome?

What is the role of imaging studies in the workup of Noonan syndrome?

What is included in the cardiac workup of Noonan syndrome?

How is development assessed in Noonan syndrome?

Why is audiologic evaluation performed in Noonan syndrome?

What is the role of genetic testing in the evaluation of Noonan syndrome?

Treatment

How is Noonan syndrome treated?

What is the role of surgery in the treatment of Noonan syndrome?

Which specialist consultations are beneficial to patients with Noonan syndrome?

Which dietary modifications are used in the treatment of Noonan syndrome?

Which activity modifications are used in the treatment of Noonan syndrome?

Medications

What is the role of medications in the treatment of Noonan syndrome?

Which medications in the drug class Growth Hormone are used in the treatment of Noonan Syndrome?

Follow-up

How is Noonan syndrome prevented?

What is included in patient education about Noonan syndrome?