What is Noonan syndrome? (Part 1)

What is Noonan syndrome (NS)?

Noonan syndrome (NS) is a genetic order which prevents normal development in various parts of the body and can affect people in a variety of ways. (Mayo Clinic, N,D.) Some of these include: 1) Unusual facial characteristics; 2) Short stature; 3) Heart defects, and 4) Possible developmental delays. A child acquires NS after receiving an affected gene from one parent, however, it can also occur as a Spontaneous mutation meaning there is no familial history involved.

What are the symptoms of NS?

Like other conditions, the symptoms of NS vary from person to person and can range from mild to severe. Areas affected include: facial features, the heart, growth issues, musculoskeletal problems, eye conditions, hearing problems, and bleeding issues.

Facial features 

The eyes of a person with NS are typically set wide apart and slant downward with droopy lids.  Their ears tend to be low set and rotated backwards. The mouth typically has a deep groove between it and the nose. Additionally, teeth might also be crooked.

 Heart issues

Generally, people with NS are born with a congenital heart defect which accounts for some of the primary signs and symptoms associated with the condition. One of the most common defects is pulmonary valve stenosis. It is also fairly common for them to experience irregular heart rhythm that may or may not be associated with a structural abnormality.

Growth issues

NS can affect normal growth. Many children with the condition do not grow at a normal rate. Eating difficulties *might* result in inadequate nutrition and cause poor weight. As they approach their teen years, the growth spurt that is customary during those years might be delayed. 

Eye problems

NS can also affect the person's eyes including the muscles of the eyes resulting in problems like crossed-eyes (Strabismus). It can also cause refractive issues such as astigmatism.

Bibliography

Mayo Clinic (N.D.). Noonan Syndrome. Retrieved on June 3, 2019 from https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/symptoms-causes/syc-20354422