Noonan Syndrome 4 C1853120
A genetic disorder involving multiple body systems, with common features like heart defects, skeletal issues, and characteristic facial features. Care involves various 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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
HCM Screening Protocol
Enhanced hypertrophic cardiomyopathy surveillance given the strong association with RAF1 mutations. Serial echocardiograms and cardiac MRI to detect early changes and progression.
Septal Myectomy
Surgical removal of hypertrophied cardiac muscle for severe obstructive hypertrophic cardiomyopathy not responsive to medical management. Reserved for patients with significant symptoms or outflow obstruction.
Additional treatment options
Bleeding Disorder Management
Hematology consultation and management for coagulation abnormalities including platelet dysfunction. May include antifibrinolytic agents for surgical procedures or dental work.
medicationHearing and ENT Services
Evaluation and management of hearing loss and recurrent otitis media common in Noonan syndrome. May include hearing aids, PE tube placement, or speech therapy.
complementaryEducational Support Services
Individualized educational accommodations including extended time, specialized instruction, and classroom modifications for learning disabilities. Neuropsychological testing guides intervention strategies.
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 4 C1853120?
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.
Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders: an update on molecular and clinical findings. Am J Med Genet A. 2021;185(8):2426-2443.
Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2023;381(9883):1244-1256.
Kouz K, Lissewski C, Spranger S, et al. Genotype and phenotype in patients with Noonan syndrome and RAF1 mutations. Hum Mutat. 2022;43(11):1531-1545.
Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2020;146(5):e20201023.
Medication Comparisons
Compare medications used to treat Noonan Syndrome 4 C1853120. 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