Noonan syndrome is a health condition that affects the entire body. People suffering from this condition may have heart defects, problems with bleeding, and malformations of their skeletal structure. Many who are born with Noonan syndrome have distinctive facial characteristics that make identifying their disorder a simple process. Eyes are usually pale blue or green, there is a deep groove between the nose and mouth, and their ears are set lower and are rotated backward.
Facts About Noonan Syndrome
1. PTPN11, SOS1, or RAF1. PTPN11 gene mutations alone account for approximately 50% of all cases of Noonan syndrome.
2. It appears in about 1 in 1,000 births. In some regions, the occurrence rate may be as low as 1 in 2,500 births.
3. SOS1 gene mutations alone account for 10 to 15% of all Noonan Syndrome cases.
4. Mutations on the KRAS gene typically result in a more severe and debilitating disorder, which accounts for 2% of all known cases.
5. 1 in 5 people who are diagnosed with Noonan syndrome will have no known cause for their disorder.
6. 85% of children born with Noonan Syndrome will develop some sort of cardiovascular problems at some point in their life.
7. The presence of Noonan Syndrome increases the risks of a child developing juvenile myelomonocytic leukemia.
8. Boys are 2x more likely to be born with Noonan Syndrome than girls.
9. Children born from a parent who has Noonan syndrome will have a 50% chance of having the condition themselves.
10. The first specific gene identified as being associated with this disorder, PTPN11, wasn’t discovered until 2001.
11. 25% of those who are born with Noonan syndrome will experience some level of language development delay.
12. 1 in 3 children will experience some form of intellectual disability.
13. 75% of the cases of Noonan syndrome come from inherited cases instead of random mutations.
14. There is no current cure for Noonan syndrome. Treatment plans are designed to relieve bothersome symptoms as much as possible.
15. 20%. That’s the percentage of people with Noonan syndrome who will experience a thickening of the heart muscle.
16. The most common heart problem seen with Noonan syndrome is pulmonary valve stenosis.
17. Half of those diagnosed with this condition will have a defect that does not allow their blood to clot properly.
18. 50% of those with Noonan syndrome will also develop at least one or more eye conditions.
19. 60% of boys with Noonan syndrome will have reproductive system issues.
Many people who have Noonan syndrome are shorter of stature and there are physical delays in many other areas as well. For men, fertility problems can occur, yet with all of these conditions present, most individuals diagnosed with this disorder have normal to above normal intelligence during testing. Caused by genetic mutations, any changes to 1 of 6 genes can cause Noonan Syndrome. Noonan Syndrome can occur spontaneously. It can also be passed along from one affected parent.
What Are the Outcomes of Noonan Syndrome?
Some people with this condition grow up with a normal height, normal weight, and an average IQ of 100. The highest tested IQ for someone with Noonan syndrome was 119. The biggest problem that people will face, however, is congenital heart issues. Doctors will want to directly monitor heart functionality once Noonan syndrome is diagnosed to develop an effective treatment protocol. Holes in the heart are also common, so immediate surgery may be necessary.
Otherwise health conditions are treated to minimize their impact as much as possible. Human growth hormone may be prescribed to help with height issues. Those with severe disabilities may be given in-home supports for better care-taking. Because the results of this disease can be so variable, treatment plans vary widely.
If a child is struggling to put on weight after the first 60 days and the physical characteristics of Noonan Syndrome are present, then consult with a doctor immediately. In some cases, children may require a feeding tube for several months until their physical development can catch up with their physical needs. This is due to weaker muscles that may be present along the mouth. If this occurs there is also a higher risk of speech development delays as well.
If present, Noonan syndrome cannot be cured, but it can be effectively treated.