Noonan syndrome is a disease that can be passed down through families (inherited). It causes many parts of the body to develop abnormally.
Noonan syndrome is linked to defects in several genes. Certain proteins involved in growth and development become overactive as a result of these gene changes.
Noonan syndrome is an autosomal dominant
condition. This means only one parent has to pass down the nonworking gene for the child to have the syndrome. However, some cases may not be inherited.
- Delayed puberty
- Down-slanting or wide-set eyes
- Hearing loss
- Low-set or abnormally shaped ears
- Mild intellectual disability (only in about 25% of cases)
- Sagging eyelids (ptosis
- Short stature
- Small penis
- Undescended testicles
- Unusual chest shape (usually a sunken chest called pectus excavatum)
- Webbed and short-appearing neck
Exams and Tests
The health care provider will perform a physical exam. This may show signs of heart problems the infant had from birth. These may include pulmonary stenosis
and atrial septal defect
Tests depend on the symptoms, but may include:
- Platelet count
- Blood clotting factor test
, chest x-ray
, or echocardiogram
- Hearing tests
- Growth hormone levels
Genetic testing can help diagnose this syndrome.
There is no specific treatment. Your doctor will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height in some persons with Noonan syndrome.
- Buildup of fluid in tissues of body (lymphedema, cystic hygroma)
- Failure to thrive in infants
- Low self-esteem
- Infertility in males if both testes are undescended
- Problems with the structure of the heart
- Short height
- Social problems due to physical symptoms
When to Contact a Medical Professional
This condition may be found during early infant exams. A geneticist is often needed to diagnose Noonan syndrome.
Couples with a family history of Noonan syndrome may want to consider genetic counseling before having children.
Ali O, Donohoue PA. Noonan syndrome. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 577.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.