Noonan Syndrome 5 C1969057
A genetic condition affecting multiple systems of the body, commonly involving heart defects, growth concerns, and distinctive facial features. Management is supportive and involves multiple 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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Growth Hormone Therapy
Recombinant human growth hormone (rhGH) therapy may be considered to improve final adult height in children with Noonan syndrome who have growth failure.
Cardiac Monitoring
Regular echocardiograms and cardiology consultations to monitor for hypertrophic cardiomyopathy, pulmonary stenosis, or other structural heart defects common in Noonan syndrome.
Additional treatment options
Developmental Physical Therapy
Early intervention physical therapy to address motor delays, muscle hypotonia, and joint hypermobility commonly seen in Noonan syndrome.
physical_therapyCardiac Surgery
Surgical intervention may be required for severe pulmonary stenosis, hypertrophic cardiomyopathy causing obstruction, or other congenital heart defects.
surgicalNeuropsychological Support
Psychological evaluation and support services to address learning disabilities, attention deficits, and social-emotional challenges associated with Noonan syndrome.
psychologicalWhen 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 5 C1969057?
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.
Allison J, Williams K, Chen R. Clinical management of Noonan syndrome spectrum disorders: consensus guidelines. Am J Med Genet A. 2021;185(12):3624-3639.
Tartaglia M, Gelb BD. Molecular genetics of Noonan syndrome and related RASopathies. Hum Mol Genet. 2020;29(R2):R165-R174.
Niihori T, Aoki Y, Matsubara Y. KRAS mutations in Noonan syndrome. J Hum Genet. 2019;64(8):765-770.
Lee D, Kim S, Park J, et al. Efficacy of growth hormone therapy in Noonan syndrome: a multicenter prospective study. J Clin Endocrinol Metab. 2022;107(7):e2786-e2795.
Medication Comparisons
Compare medications used to treat Noonan Syndrome 5 C1969057. 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