Summary
Definition
History and exam
Key diagnostic factors
- positive family history
- short stature
- dysmorphic facial features
- cryptorchidism
- cardiac anomalies
- delayed puberty
- easy bruising or bleeding
- lymphedema
- pigmentary anomalies
- sparse or absent eyebrows and lashes
- splenomegaly
Other diagnostic factors
- abnormalities identified prenatally
- chest deformity
- developmental delay/learning difficulty
- skeletal anomalies
- muscle weakness
- history of renal malformation
Risk factors
- family history of NS
- advanced paternal age
Diagnostic tests
1st tests to order
- ECG
- echocardiogram
Tests to consider
- CBC
- coagulation profile
- molecular genetic testing
- abdominal ultrasound
- renal ultrasound
Treatment algorithm
all patients
Contributors
Authors
David A. Stevenson, MD
Associate Professor
Department of Pediatrics
Division of Medical Genetics
Stanford University
Stanford
CA
Disclosures
DAS has acted as a consultant for Lineagen, GLG, and Alexion, and has given expert testimony. He is on the medical advisory board for parents' support groups for Costello syndrome and CFC syndrome. DAS is an author of a reference cited in this topic. DAS has also been reimbursed by RASopathies Network for attending conferences.
Acknowledgements
Dr David A. Stevenson would like to gratefully acknowledge Dr Judith E. Allanson, the previous contributor to this topic. JEA is an author of a number of references cited in this topic.
Peer reviewers
Liliana N. Contreras, MD
Chief
Endocrine Research Department
Instituto de Investigaciones Médicas Alfredo Lanari
IDIM-CONICET
University of Buenos Aires
Argentina
Disclosures
LNC declares that she has no competing interests.
Bruce Gelb, MD
Professor of Pediatrics
Mount Sinai School of Medicine
New York
NY
Disclosures
BG received royalties from GeneDx, Correlegan, Preventative Genetics, Baylor College of Medicine, and Harvard Medical School/Partners for genetic testing of Noonan syndrome. BG is an author of a number of references cited in this topic.
Jacqueline Noonan, MD
Professor Emeriti
Department of Pediatrics
College of Medicine
University of Kentucky
Lexington
KY
Disclosures
JN is on the Noonan Syndrome Advisory Board for Novo Nordisk and has received payment for speaking at a symposium. JN is an author of a number of references cited in this topic.
References
Key articles
Jorge AA, Malaquias AC, Arnhold IJ, et al. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res. 2009;71(4):185-93.Full text Abstract
Shaw AC, Kalidas K, Crosby AH, et al. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child. 2007 Feb;92(2):128-32.Full text Abstract
Lee DA, Portnoy S, Hill P, et al. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol. 2005 Jan;47(1):35-8. Abstract
Ishizawa A, Oho S, Dodo H, et al. Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Acta Paediatr Jpn. 1996 Feb;38(1):84-90. Abstract
Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4):746-59. Abstract
Raaijmakers R, Noordam C, Karagiannis G, et al. Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database. J Pediatr Endocrinol Metab. 2008 Mar;21(3):267-73. Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Turner syndrome
- LEOPARD syndrome
- Cardio-facio-cutaneous syndrome
More DifferentialsGuidelines
- Noonan syndrome: clinical features, diagnosis, and management guidelines
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