Noonan Syndrome 6 C2750732
A genetic disorder affecting various body systems, often including heart abnormalities, short stature, and characteristic facial features. Treatment requires coordinated care from several medical specialists.
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
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
Cardiac Surveillance Program
Comprehensive cardiac surveillance including regular ECGs and echocardiograms to detect and monitor hypertrophic cardiomyopathy and valve abnormalities.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Heart Failure Management
Medical management of heart failure symptoms using beta-blockers, ACE inhibitors, or diuretics as appropriate for cardiac dysfunction.
Additional treatment options
Motor Skill Development Program
Structured physical therapy focusing on balance, coordination, and strength training to address motor delays and improve functional mobility.
physical_therapyOrthopedic Intervention
Surgical correction of skeletal abnormalities including chest wall deformities, scoliosis, or limb abnormalities when conservative measures fail.
surgicalActivity Modification Counseling
Guidance on appropriate physical activities and exercise limitations based on cardiac status and physical capabilities to prevent complications.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Noonan Syndrome 6 C2750732?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Roberts AE, Tartaglia M, Gelb BD. Clinical practice guidelines for Noonan syndrome: diagnostics and management. Genet Med. 2020.
Chen J, Romano D, Aoki Y. Molecular pathogenesis of Noonan syndrome: the role of RAS/MAPK pathway variants. Hum Mol Genet. 2019.
Binder G, Ranke MB, Martin DD. Growth hormone treatment in Noonan syndrome: a multicenter efficacy study. J Clin Endocrinol Metab. 2021.
Limongelli G, Marino B, Digilio MC. Cardiac manifestations in Noonan syndrome: a 20-year follow-up study. Orphanet J Rare Dis. 2022.
Medication Comparisons
Compare medications used to treat Noonan Syndrome 6 C2750732. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy