Noonan Syndrome

Noonan Syndrome

• Symptoms of this genetic disorder include a characteristic facial appearance, short stature, heart defects present at birth, a broad or webbed neck and minor eye problems. Furthermore, there can also be bleeding problems, an unusual chest shape with widely spaced or low set nipples and developmental delay of varying degrees.
• This syndrome is caused by changes in one of the autosomal dominant genes (“Noonan” 1). This disorder is caused at inception so a defective sperm or egg is a carrier for this disorder. Four genes, PTPN11, SOS1, RAF1 and KRAS, have been identified so far as being carriers for this disorder.  
• Treatment for Noonan syndrome is based upon the individual’s particular symptoms. Any symptoms are treated in the same way that they are treated for the normal population.
• This disorder is present in about 1 in 1,000 to 1 in 2,500 people.