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Noonan syndrome

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Illustrations

Pectus excavatum
Pectus excavatum

Definition    Return to top

Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. It used to be called Turner-like syndrome because certain symptoms (webbing of neck and abnormally shaped chest) resembled those seen in Turner syndrome.

Causes    Return to top

Defects in the KRAS and PTPN11 genes cause Noonan syndrome. About half of those affected by Noonan syndrome have a PTPN11 mutation. Persons with a defect in the KRAS gene have a severe or atypical form of Noonan syndrome. Problems with these genes cause certain proteins involved in growth and development to become overactive.

Noonan syndrome is inherited, which means it is passed down through families. It is an autosomal dominant condition. However, the fact that some children do not have a parent with Noonan syndrome likely reflects that some cases may occur due to new mutation in a gene.

The disease occurs in approximately 1 in 1,000 to 2,500 children.

Symptoms    Return to top

Exams and Tests    Return to top

Examination may show an extra fold of skin above the eyes (epicanthal folds) and arms that may be held at an unusual angle.

There may be signs of congenital heart disease (especially pulmonary stenosis, occasionally ASD).

Blood tests to look at platelet count and blood factors may reveal signs of a bleeding tendency.

Specific tests depend on the symptoms present. For example, if there are signs of heart disease, an EKG, chest x-ray or echocardiogram may be recommended. Hearing tests are recommended for those who have signs of decreased hearing.

Genetic testing can identify mutations in the PTPN11 gene.

Treatment    Return to top

There is no single treatment for Noonan syndrome. Treatment focuses on the individual symptoms. Growth hormone has been used successfully to treat short stature in some persons with Noonan syndrome.

Support Groups    Return to top

The Noonan Syndrome Support Group, Inc. -- www.noonansyndrome.org

Outlook (Prognosis)    Return to top

The expected outcome depends on the extent and severity of symptoms. Patients can lead normal lives.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

This condition may be detected on early infant exams. Evaluation by an experienced geneticist is often needed to diagnose Noonan syndrome.

Prevention    Return to top

Couples with a family history of Noonan syndrome may want to consider genetic counseling before having children.

Update Date: 7/1/2007

Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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