Noonan syndrome history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian, Yazan Daaboul

The most important part of the patient history is a detailed family history of cardio-facial syndromes associated with short stature and developmental delays. Other important questions include history of bleeding tendency, feeding difficulty, and developmental delays.

Patients with Noonan syndrome have different presentations due to the variable expression of the disorder, although certain findings on history are common in most cases:^[1][2][3][4]

• Family history is crucial in patients with suspicion of Noonan syndrome as the disease is transmitted by autosomal dominant inheritance. Family members with cardio-facial congenital disorders could aid in establishing the diagnosis.
• Feeding difficulty and failure to thrive is common in patients with Noonan syndrome especially in the first 15 months. Twenty five percent of patients have prolonged feeding time, recurrent vomiting, or poor suck and often require tube feeding.
• Bleeding diathesis and easy bruisability can be seen in 65% of patients.
• Some form of social, academic, or emotional impairment is usually present in approximately one third of patients.

Template:Phakomatoses and other congenital malformations not elsewhere classified

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