Noonan syndrome is the most common rare syndrome you've never heard of. And 4-year-old Lila Santilli has had it since birth. "She was born with something like a nuchal fold, which is an excess amount ...

Two years ago, Maria, then 14, started feeling off. Her stomach hurt and she often experienced nausea. She was exhausted and looked really pale. Worried, her parents took her to the emergency room.

A single mutation in the mouse genome -- within the K-Ras gene -- reproduces the main alterations found in humans of this rare syndrome, which include short stature, facial dysmorphia, cardiac ...

A previously healthy infant who suffered aborted sudden cardiac death was found to have a de novo genetic mutation in the SOS1 gene. Such mutations are typical of Noonan syndrome and suggests the ...

Noonan syndrome is a genetic disorder that affects normal development, causing skeletal, cardiac, and neurocognitive delays. The infant had none of the usual structural cardiac findings of Noonan ...