Learn About Noonan Syndrome

View Main Condition: RASopathies

What is the definition of Noonan Syndrome?

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).

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What are the causes of Noonan Syndrome?

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.

What are the symptoms of Noonan Syndrome?

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
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What are the current treatments for Noonan Syndrome?

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.

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What are the support groups for Noonan Syndrome?

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

What are the possible complications of Noonan Syndrome?

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
When should I contact a medical professional for Noonan Syndrome?

This condition may be found during early infant exams. A geneticist is often needed to diagnose Noonan syndrome.

How do I prevent Noonan Syndrome?

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

Pectus excavatum
What are the latest Noonan Syndrome Clinical Trials?
Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Phase III Randomized Controlled Trial

Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful. Acceptance and Commitment Therapy (ACT) is a therapy that helps people become more aware and accepting of difficult thoughts and feelings. ACT has been found to be helpful for parents with high parenting stress...

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Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies

Background: RASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects. They may also have an increased risk for developing cancer. Researchers want to learn more.

What are the Latest Advances for Noonan Syndrome?
The Effect of Growth Hormone Therapy on Cardiac Outcomes in Noonan Syndrome: Long Term Follow-up Results.
Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome.
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SEVERE INFANTILE ASTHMA TREATED WITH LONG-ACTING MUSCARINIC ANTAGONIST: A CASE SERIES.
Who are the sources who wrote this article ?

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.

What are the references for this article ?

Cooke DW, Divall SA, Radovick S. Normal and aberrant growth in children. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 25.

Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1.

Mitchell AL. Congenital anomalies. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 30.