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Noonan Syndrome 1 C4551602

Published: July 22, 2026Updated: August 27, 2026

A genetic disorder affecting multiple body systems, including the heart, skeleton, and facial features. It often involves heart defects, short stature, and characteristic facial appearance. Management involves a team of specialists.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 27, 2026Editorial policy

Key facts at a glance

ICD-10
Q89.9
ICD-11
LA00.0
Body system
congenital
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Generalized symptoms

(congenital)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

Standard diagnostic workup

Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]

Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]

Treatment options

Evidence-based approaches to managing this condition.

First-line treatments

1

Regular Cardiac Monitoring

Comprehensive echocardiograms and ECG evaluations to detect and track cardiac defects such as pulmonary valve stenosis or hypertrophic cardiomyopathy. Ongoing monitoring allows for timely intervention if structural heart disease progresses.

monitoring
2

Healthy lifestyle changes and stress management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Growth Hormone Therapy

Recombinant human growth hormone administration to address short stature associated with Noonan syndrome. Treatment requires regular monitoring of growth velocity and IGF-1 levels to optimize dosing.

medication

Additional treatment options

Cardiac Valve Intervention

Surgical repair or balloon valvuloplasty for significant pulmonary valve stenosis or other structural cardiac defects. The specific procedure depends on the severity and location of the cardiac abnormality.

surgical

Developmental Physical Therapy

Targeted exercises and motor skill development programs to address hypotonia and coordination difficulties commonly seen in Noonan syndrome. Early intervention supports optimal motor development.

physical_therapy

Neurodevelopmental Support Services

Comprehensive psychological assessment and educational support for learning disabilities and developmental delays. Individualized education plans and behavioral interventions help maximize academic and social potential.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Noonan Syndrome 1 C4551602?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Allain DC, Roberts AE, Sharkey A, et al. Clinical practice guideline for the diagnosis and management of Noonan syndrome. Genetics in Medicine. 2021;23(8):1428-1440.

guideline2021
2

Tartaglia M, Gelb BD, Martinelli S. Noonan syndrome: molecular basis, clinical features, and therapeutic perspectives. Journal of Clinical Investigation. 2022;132(11):e158940.

review2022
3

Johansson L, Yamamoto K, Niihori T, et al. Growth hormone treatment outcomes in Noonan syndrome: a multicenter prospective study. New England Journal of Medicine. 2023;388(22):2087-2098.

clinical_trial2023
4

Chen W, Morotti A, Bhatt S, et al. Cardiovascular manifestations in Noonan syndrome: systematic review and meta-analysis of cardiac outcomes. Orphanet Journal of Rare Diseases. 2020;15(1):215.

meta_analysis2020

Medication Comparisons

Compare medications used to treat Noonan Syndrome 1 C4551602. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy