Noonan+syndrome


 * Noonan Syndrome **


 * What is it? - ** Noonan Syndrome is an inherited disorder of cell growth affecting both males and females and characterized by unusual facial feature including; short stature (height), heart defects, bleeding problems, chest wall abnormalities, and other signs and symptoms. Noonan syndrome occurs in about 1 in 2,000 births. This condition is familial in certain cases, includes congenital heart defects and is associated with normal chromosomes.




 * 1. The Discovery - **The first reported patient with Noonan Syndrome was reported by Kobylinski in 1883. The individual was a 20-year old male with what seemed like webbing on his neck (which was a feature that seemed to prompt a majority of the early reports). In 1902, Funke described a patient with a webbed neck, who also presented with a short stature, cubitus valgus (a deformity of the elbow), micrognathia (undersized jaw) and other minor abnormalities. This publication was followed by a report by Ullrich in 1930 who described 8-year old girl with similar features.

In 1962, a pediatric cardiologist Jacqueline Noonan presented a clinical study of associated non-cardiac malformations in children with congenital heart disease at the Midwest Society for Pediatric Research, where she also described nine patients that shared distinctive facial features and who had a short stature, pulmonary stenosis and significant chest deformities. In 1968 she published the nine and an additional ten patients in the American Journal of Diseases of Children. Pediatrician John Opitz proposed the eponym Noonan syndrome, which was adopted in recognition of dr. Noonan, as she was the first to identify and recognise the syndrome.




 * 2. The ** **Symptoms -** Noonan syndrome is a condition notable both for its frequent occurrence and phenotypic variability. It is one of the most common non-chromosomal disorders in children with congenital heart disease (with an estimated prevalence worldwide of 1 in 1000-2500). Average age at diagnosis is nine years, and life expectancy is likely normal unless serious cardiac defects are present. The principal features of Noonan syndrome are short stature, characteristic facial appearance that changes with age, congenital heart defects, webbed or broad neck, pectus deformity, undersized jaw, elbow deformities, trouble with the lungs, and mild intellectual handicap in some instances.





**3. Inheritance pattern-** Noonan’s disease is inherited as an autosomal dominant disease, meaning that the abnormal gene is on a non-sex chromosome and requires just one of two inherited genes to be abnormal. The syndrome may also occur by a spontaneous mutation of the gene involved. Since it is a genetic disease, there is no cure. Noonan syndrome is an autosomal dominant disorder. Rare cases with parental consanguinity have been described, but it is not clear that these represent true instances of autosomal recessive inheritance.

** 4. Environmental factors- ** Noonan syndrome is caused by a faulty gene, which is usually inherited from one of the child's parents. There's no evidence to suggest the genetic fault is caused by environmental factors, such as diet or exposure to radiation. (So there is no environmental factors.)

** 5. Commonness- ** According to the National Organization for Rare Disorders, Noonan syndrome is thought to affect approximately 1 in 1,000 to 1 in 2,500 people. Noonan Syndrome is an inherited disorder present since birth. The incidence of the condition is 1 in 1000. The incidence of Noonan Syndrome is the same between the male and female population. There is no geographical, racial, and ethnicity preference for this disorder.

**6. Diagnosis-** If Noonan syndrome has been confirmed or is strongly suspected, more tests are needed to establish the extent of the symptoms. These tests may include: Some of these tests may need to be repeated regularly after the diagnosis, to monitor the condition. If you're pregnant, it may be possible to test your unborn baby for Noonan syndrome if: Testing for Noonan syndrome during pregnancy involves collecting a sample of your baby's DNA and checking it for any of the faulty genes associated with the condition.
 * an electrocardiogram (ECG) – where electrodes (small, metallic discs placed on the skin) measure the electrical activity of the heart.
 * an echocardiogram – an ultrasound scan of the heart
 * an educational assessment.
 * blood tests to check how well the blood clots.
 * eye tests – to check for problems such as squints or blurred vision.
 * hearing tests – to check for problems such as hearing loss caused by otitis media or damage to the cells or nerves inside the ear.
 * <span style="background-color: #ffffff; color: #068760; font-family: Merriweather; font-size: 14pt; vertical-align: baseline;">you, your partner or a close family member has been found to carry one of the faulty genes associated with the condition
 * <span style="background-color: #ffffff; color: #068760; font-family: Merriweather; font-size: 14pt; vertical-align: baseline;">routine ultrasound scans detect possible signs of the condition in your baby, such as polyhydramnios (an excessive amount of amniotic fluid), pleural effusion (fluid in the space around the lungs) or a build-up of fluid in certain other parts of the body



<span style="background-color: #ffffff; color: #495fa3; font-family: Merriweather; font-size: 14pt; vertical-align: baseline;">**7. Chromosome-** Noonan syndrome is found in chromosome 21. Approximately 50 percent of individuals with Noonan syndrome have mutations in the PTPN11 gene.

<span style="background-color: #ffffff; color: #c42869; font-family: Merriweather; font-size: 14pt; vertical-align: baseline;">Works cited-

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