Alternative Names & Classifications:
Noonan Syndrome (CLINICAL)
Description
Noonan syndrome is caused by mutations in multiple genes related to the RAS/MAPK signaling pathway, which is critical for regulating cell division and growth. These mutations cause the pathway to be continually active, disrupting normal embryogenesis and leading to unique facial characteristics, short stature, and congenital heart defects. It is inherited in an autosomal dominant pattern but often occurs as a new mutation.