Living with Noonan syndrome
A genetic condition affecting many parts of the body, with distinct facial features, short stature, heart differences, and sometimes bleeding problems.
Understanding Noonan syndrome
People often have mildly unusual facial features, such as widely spaced eyes and low-set ears. Between 50 and 70 percent have short stature. Most have some form of heart disease present from birth, most often a narrowed pulmonary valve. Bleeding disorders, chest and spine differences, and other symptoms are also described. GARD lists onset as a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart differences, such as a narrowed pulmonary valve
- Short stature
- Bleeding problems or easy bruising
- Webbed or short neck
- Sunken or protruding chest
- Crossed eyes (strabismus)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, cancer specialists and eye disease specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Noonan Syndrome Foundation, Hypertrophic Cardiomyopathy Association and RASopathies Network may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: Noonan Syndrome Foundation, Hypertrophic Cardiomyopathy Association, RASopathies Network
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Noonan Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It can be inherited in an autosomal dominant way, where one changed copy can be enough, or an autosomal recessive way, where a child inherits a changed copy from each parent.
Also known as: noonan-ehmke syndrome; noonan's syndrome; ns; turner phenotype, karyotype normal; turner-like syndrome; turner's phenotype, karyotype normal
Patient organizations
- Noonan Syndrome FoundationNoonan syndrome · United States
- Hypertrophic Cardiomyopathy AssociationNoonan syndrome · United States
- RASopathies NetworkNoonan syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Noonan syndrome.
Explore research for Noonan syndrome
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