Doctor insights on:
Noonan Syndrome Life Expectancy
Lots of issues: Noonan syndrome is a congenital disorder that can be due to a spontaneous mutation or due to autosomal dominant inheritance from a parent. There are a number of common features including but not limited to unusual facial features, short stature, heart defects, etc. Check out http://www. Mayoclinic. Com/health/noonan-syndrome/ds00857. ...Read more
Genetic condition: Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by noonan syndrome in various ways: unusual facial characteristics, short stature, heart defects, other physical problems and possibly lower intelligence. ...Read more
Noonan syndrome: Noonan syndrome is an autusomal dominant genetic disorder affecting both sexes equally. The syndrome consists of elfin like facial features, short stature and possible cardiac defects. ...Read more
Noonan syndrome: Is a genetic disorder which is not treatable. Management usually consists of a combined effort with a medical team consisting of a cardiologist, hematologist, endocrinologist and dentist, along with a primary care provider for routine vaccinations and coordination of care. ...Read more
Link to overview:
Here is a link to a Mayo Clinic overview of Noonan syndrome. It's too complex to explain in 400 characters. I hope this tells you what you want to know.
http://www. Mayoclinic. Org/diseases-conditions/noonan-syndrome/basics/definition/con-20028908 ...Read more
Treatment by a: "d/b pede" manages neurodevelopmental symptoms: mild intellectual disability in 1/3rd, language-based learning disabilities (especially with sensorineural deafness), adhd (treated medically if pediatric cardiologist okays), poor motor coordination. A pediatric cardiologist, dentist, hematologist, ent, audiologist, slt, ot, psychologist & others team to manage medical & developmental problems. ...Read more
Genetic: Affects boys and girls (about 1 in 2000 births). Signs include short stature, webbed neck, heart problems (pulmonary stenosis), unusual facial features (small jaw, slanted eyes, wide set eyes), pigeon chest (pectus excavatum), low iq. Males have small testes with low testosterone. Sexual maturity is delayed. Often caused by mutation on chromosome 12. ...Read more
What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?
A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more
Hi, I'm 12w pregnant. My blood test for DS (risk: 1/4700) tells that PAPP-a is 4.1mom. What does a HIGH PAPPa value mean? Could it be noonan syndrome?
Need more info: This test is not interpreted alone. HCG levels and nuchal thickness or translucency measurements are also needed in order to interpret the test data. Cannot and should not use this test by itself. Please discuss with your OB provider. Best of luck with your pregnancy.Dr. R ...Read more
Am I not fertile? Whenever I get my period, the cramps are always on the left side. Is it because that's the side I only have eggs on? And I was diagnosed with noonan syndrome, and I was doing research on it and it said only 23% of women diagnosed with noo
The best idea may be to consult a geneticist to review your charting and give you answers regarding your fertility. They can discuss the noonan syndrome and plans for fertility with you so that you are completely informed.
Cramping only the left does not mean that is the only side you have eggs on. Some women experience menstrual cramping more on one side than the other. Ovulation (release of the egg) actually occurs two weeks before your period. ...Read more
Have noonan syndrome factir 11 deficiency clot and have a heart stent due to a car accident if I take medicine to prevnt infections can I get a tatto?
Noonan's syndrome: Ten to 15 percent of childre n with Noonan's Syndrome carry the SOS1 mutation ...Read more
Will my 23yrold friend have brain damage, noonan disease seizures now edemea whole body. 9 days in hospital no response a little hand squeeze today.
Recovery: Has your friend suffered a traumatic brain injury or stroke? Now that some recovery has occurred what the final outcome is not predictable. Speak to the critical care physician caring for your friend. ...Read more
Know a child with noonan &always in ER with EXTREME stomach pain on cyproheptadine, vitb1, tramadol, Omeprazole, Netropin, spin 20. Labs normal. Ideas??
Haven't seen numbers: Haven't seen any numbers on life expectancy of lennox-gastaut patients. Maybe nobody has collected and published that information. One website reported a 3%-7% mortality in patients over a 9 year period (that sounds like 1/2 % per year). The deaths were often due to accidents. In such disorders, if a person is watched and cared for closely, he can outlive parents, and die of other natural causes. ...Read more
Normal: Life expectancy should be normal. There are no effects that affect heart, or other major systems that would reduce life expectancy. ...Read more
Average > 60 yrs: As long as the initial issues facing these infants are addressed as they would for normal kids (heart defects, abdominal defects, etc) they have a projected lifespan in excess of 60 years. ...Read more
This disease has been diagnosed in about 300-500 people and is known as a disease entity only since 2005. Life expectancy is expected to increase like in Marfan's syndrome with improved awareness and medical progress.
Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely.
A valuable resource for this is
http://www. Loeysdietz. Org/index. Ph. ...Read more
No data about this: Life expectancy is generally reduced but there is no data available to tell us how much it is reduced. It depends on the complications of the disease, especially if there are cardiac problems. ...Read more
Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal. ...Read more
My friend has a mild form of marphan syndrome. She takes her medication. What's her life expectancy?
Marfan syndrome: With excellent care, can be normal. Cardiac and vascular care by specialists is essential. ...Read more
Normal: These women appear no different from any other and have no special problems. ...Read more
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