Noonan syndrome is a disease present from birth (congenital) that causes many parts of the body to develop abnormally. In some cases it is passed down through families (inherited).

Noonan syndrome is linked to defects in several genes. In general, 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.

Symptoms include:

• Delayed puberty
• Down-slanting or wide-set eyes
• Hearing loss (varies)
• 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 (most often a sunken chest called pectus excavatum)
• Webbed and short-appearing neck

There is no specific treatment. Your provider will suggest treatment to relieve or manage symptoms. Growth hormone has been used successfully to treat short height in some people with Noonan syndrome.

More information and support for people with Noonan syndrome and their families can be found at --  www.teamnoonan.org.

Complications may include:

• Abnormal bleeding or bruising
• Buildup of fluid in tissues of body (lymphedema, cystic hygroma)
• Failure to thrive in infants
• Leukemia and other cancers
• 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

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.

Published Date: January 06, 2022
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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