View Main Condition: RASopathies
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:
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.
Martin Zenker practices in Magdeburg, Germany. Zenker is rated as an Elite expert by MediFind in the treatment of Noonan Syndrome. He is also highly rated in 77 other conditions, according to our data. His top areas of expertise are Rommen Mueller Sybert Syndrome, Noonan Syndrome, RASopathies, Syndactyly, and Kidney Transplant.
Marco Tartaglia is an Internal Medicine expert in Bloomfield, New Jersey. Tartaglia has been practicing medicine for over 44 years and is rated as an Elite expert by MediFind in the treatment of Noonan Syndrome. He is also highly rated in 55 other conditions, according to our data. His top areas of expertise are Noonan Syndrome, RASopathies, Rommen Mueller Sybert Syndrome, and Short Stature (Growth Disorders). He is licensed to treat patients in New Jersey.
Helene Cave practices in Paris, France. Cave is rated as an Elite expert by MediFind in the treatment of Noonan Syndrome. She is also highly rated in 28 other conditions, according to our data. Her top areas of expertise are Noonan Syndrome, RASopathies, Juvenile Myelomonocytic Leukemia (JMML), Transient Neonatal Diabetes Mellitus, and Bone Marrow Transplant.
More information and support for people with Noonan syndrome and their families can be found at -- www.teamnoonan.org.
Complications may include:
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.
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...
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.
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.
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.