GENERAL INFORMATION
Noonan Syndrome is a disease that can be inherited
- Noonan Syndrome is an autosomal dominant condition(only one parent has to pass down this faulty gene for baby to have the syndrome
2. This disease is a dominant trait
- Noonan Syndrome is linked to defects in several genes which causes proteins involved in growth and development to become over-active. The gene PTPN11 account for approximately 50% of all cases of Noonan Syndrome
- Chromosome 12 is affected by Noonan Syndrome
INDIVIDUAL EFFECTS
- Heart, kidneys,spleen, and liver are organs affected by Noonan Syndrome
DISEASE STATISTICS
- Noonan Syndrome is estimated to occur in 1 in 1,000 - 2,500 live birth
- Estimates vary, but it is thought that between 1 in 1,000 to 1 in 5,000 children suffer with Noonan Syndrome
- Although Noonan Syndrome is not common in the U.S, but in Sweden it is estimated that about 75 children a year are born with Noonan Syndrome
DIAGNOSIS & TREATMENT
- . Any child suspected of having the syndrome should have a complete heart examination, to look for heart defects. Blood tests can check for a deficiency of Factor XI or other clotting factors. Putting all these results together can help confirm a diagnosis of Noonan
- Treatment for Noonan syndrome focuses on its symptoms. Close monitoring of the individual's heart condition is important, because heart problems are the most common cause of death for people with the syndrome
- Since the symptoms can vary widely, different specialists might be needed to provide medical care for different individuals.
HISTORY & CURRENT RESEARCH
- In 1962, Jacqueline Noonan, a pediatric cardiologist, identified 9 patients whose faces were remarkably similar and who, in addition, had short stature, significant chest deformities, and pulmonary stenosis. In 1968, Dr Noonan published a case series with these 9, plus an additional 10 patients. The eponym “Noonan Syndrome” was adopted in recognition of Dr Noonan, because she was the first to indicate that this condition occurred in both genders
- There is no research currently being conducted on the Noonan Syndrome Disease
BIBLIOGRAPHY:
- WWW. Noonan Syndrome:MedlinePlus
- WWW. Socialstyrelsen.se/raredisease/noonansyndrome#anchor_6
- WWW. Teamnoonan.org /information/
- WWW. Google.com