Noonan Syndrome

Noonan Syndrome Nicole Mitchell Dr. Hendricks Principles of Biology 1114 April 19, 2013 Mostly everyone in the world has heard of some type of genetic disorder. But most people haven’t even heard or understand about Noonan Syndrome. Noonan syndrome is a genetic disorder characterized by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, and bleeding difficulties. Noonan syndrome affects a good percent of the world and may happen to anyone. Noonan syndrome has many key symptoms and very few certain treatment options.
Noonan syndrome used to be referred to as the male version of Turner’s syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features of Noonan disorder include congenital heart defect (typically pulmonary valve stenosis) also ASD, hypertrophic cardiomyopathy, short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge.
The syndrome is named after Dr. Jacqueline Noonan. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway deregulation. Noonan syndrome is a relatively common genetic disorder with an estimated prevalence of 1 in 1000 to 1 in 2500 births. If someone knows enough about this disorder, they may be able to spot them out. However, people who have Noonan syndrome have problems not only on the outside but mainly on the inside. Noonan patients have to battle a lot mainly when it comes to their heart.

Cardiomyopathy is more than fifty percent of the problem and the main reason of death. To explain for a moment, Cardiomyopathy can cause heart failure and sudden cardiac death. Not only do they have to worry about cardiomyopathy, they have atrial septal defect (ASD). ASD only appears in ten percent or less of Noonan patients and may be so small it will not affect the patient to an extreme level. To elaborate, ASD allows oxygen to get to the tissues, organs, and to each side of the heart. Not only does Noonan disorder have problems in the cardio area, but also in the gastrointestinal system.
Infants up to adults may have problems with their appetite, digestive issues, forceful vomiting, and difficulties swallowing. Considering normal people eat through their mouth, it can be very hard or unpleasant for a child with Noonan syndrome to eat and not only eat but to keep it down. Another big issue with Noonan patients are they tend to have a hematologic symptoms like easy bruising, blood clotting disorders, and partial deficiency of Factor VIII:C, XI:C, and XII:C. Not only do I feel bad for the patient themselves, but whoever has to take care of them.
Since no one has x-ray vision except for Superman, it comes in handy to know the external signs of Noonan Syndrome. Noonan syndrome sounds like a few disorders combined. Their body stature and posture is very unmannered. They normally have a short stature, cervical neck or spine, scoliosis, a depression or outward breast bone, and a very low muscle tone. Their head usually has excess skin on the back of the neck, a low hairline in the back and high hair line in the front. Their heads are usually large and triangular shaped. They have a short and/or webbed neck.
Their eyes are unusually very wide and their eyelids droop excess fully. Over ninety percent has low set ears, backward rotated ears, thick outer rim of the ear and sometimes incomplete ear folds. They have a deeply grooved top lip line and their fingers are bluntly ended, sometimes extra padded (on toes as well), and may have poor tongue control. Sometimes we do not even notice most of these body parts, but now that people know they often look. Treatment of the symptoms and complications that occur with Noonan syndrome depends on their type and severity.
Many of the health and physical issues associated with this syndrome are treated just the way they are in the general population. The heart will be treated with certain drugs and surgery may be necessary. Since there are no many different factors with Noonan syndrome children are checked multiple times a year. Family doctors or the doctors of the parents choosing focus on the blood chemistry, thyroid function, bone growth and hormone levels. If a child’s growth hormone levels are insufficient, growth hormone therapy may be a treatment option.
For the other factors like learning disabilities, vision care, and etc. , they are treated like every other special child and normal child. If the child does, and most likely will, have a learning disability then if caught early on doctors can find certain centers that teach on speech and the learning process. When you look up or study these genetic disorders, you learn that most of them are really not so rare. I have heard about Noonan Syndrome before but I never knew how common it was. I only learned that it is a very unique disorder and sounds very much like Turner’s syndrome.
It makes me sad to believe that parents have to suffer so much through all of these treatments and never knowing really what they can do. They may wake up one morning and their child has gone into cardiac arrest. It’s a sad disorder and there is no treatment for the Noonan syndrome itself, but only what they can do for anyone else. Not saying that the medicine today is not good enough, but maybe not fast enough or efficient enough for a child or adult who has so many more problems to deal with. I can only imagine that they person will be required to take a minimum of fifteen pills a day depending on how many symptoms they have.
Noonan syndrome is a terrible genetic disorder that affects both the inside and outside of every patient. It is a roller coaster ride of a life and never know what will or may happen once the child or adult falls asleep. It is common everywhere in the world and happens between one thousand and two thousand five hundred children a year. Even though it is very similar to Turners Syndrome, this happens in both males and females. Most children with the disorder look alike and have most of the same symptoms. It is unlikely to have other symptoms, but with this genetic disorder anything is possible.
Signs or symptoms increase all of the time and there is no set guideline for the things that may occur. Work Citied Romano, A. , MDA, and Allanson, J. , MDb. “Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines. ” Google Scholar. 27 September , 2010. Pediatrics Vol. 126 No. 4 p. 746 -759. Web. 12 April , 2013. http://pediatrics. aappublications. org/content/126/4/746. full. Lisbona, P. and Moreno, M. “Noonan Syndrome” Google Scholar. March 2009 vol. 18 no. 3 p. 267-269. Web. 09 April, 2013. http://lup. sagepub. com/content/18/3/267. abstract. Pediatr, C. Noonan Syndrome: An Update and Review for the Primary Pediatrician. ” Google Scholar. September 1994 33:p. 548-555. Web. 12 April, 2013. http://cpj. sagepub. com/content/33/9/548. full. pdf+html Connor, W. and Noonan J. “Noonan syndrome: A clinical description emphasizing the cardiac findings. ” Wiley Online Library. 19 JAN 2011. Japan Pediatric Society. Web. 10 April, 2013. http://onlinelibrary. wiley. com/doi/10. 1111/j. 1442-200X. 1996. tb03443. x/abstract. Baraitser, M. and Patton, M. “A Noonan-like short stature syndrome with sparse hair. ” Journal of Medical Genetics. 23:2. Web. 08 April, 2013.