Families have shared their experiences of a condition they say is surprisingly common - yet often doctors involved in treatment have not heard of it. Researchers from Loughborough University spoke to ...

Noonan syndrome is a rare genetic disorder. If you have it, you might have certain identifiable facial features, short height, and unusual chest shape. You may also have heart defects. It can cause a ...

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 ...

Gain-of-function variants in some RAS–MAPK pathway genes, including PTPN11 and NRAS, are associated with RASopathies and/or acquired hematological malignancies, most notably juvenile myelomonocytic ...

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 ...

Pigmented villonodular synovitis (PVS) is a benign proliferative disorder of the synovial tissue, which may affect the synovial-lined large joints (more commonly the knee and ankle) or tendon sheaths ...