eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Noonan Syndrome: Treatment & Medication

Author: Jennifer Ibrahim, MD, Chief, Genetics Division, St Joseph's Children's Hospital
Coauthor(s): Margaret M McGovern, MD, PhD, Professor and Chair of Pediatrics, Stony Brook University, New York
Contributor Information and Disclosures

Updated: Jul 24, 2009

Treatment

Medical Care

  • Growth hormone has been used to accelerate growth in some patients with Noonan syndrome.
  • Significant improvement of near-adult height has now been documented. 
  • This treatment is well tolerated, with very few adverse events reported.7,8

Surgical Care

  • Certain types of congenital heart lesions are amenable to surgical correction.

Consultations

  • Geneticist
  • Cardiologist
  • Hematologist
  • Ophthalmologist
  • Neurologist
  • Audiologist

Diet

  • No special dietary restrictions apply.

Activity

  • Activity may be limited by cardiac status and the presence of hematologic abnormalities.

Medication

Growth hormone may be used to treat short stature associated with Noonan syndrome.

Growth Hormone

Physiologic replacement for conditions of growth hormone deficiency.


Somatropin (Norditropin)

Human growth hormone produced by recombinant DNA technology (mouse C127 cell line). Elicits anabolic and anticatabolic influence on various cells including: myocytes, hepatocytes, adipocytes, lymphocytes, and hematopoietic cells. Stimulates growth of linear bone, skeletal muscle, and organs. Exerts activity on specific cell receptors including insulinlike growth factor-1 (IGF-1). Indicated for short stature associated with Noonan syndrome.

Adult

Not established

Pediatric

Norditropin: Up to 0.066 mg/kg/d SC

Glucocorticoids may decrease growth promoting effects

Documented hypersensitivity; sensitivity to benzyl alcohol; active neoplasia; acute critical illness following open heart or abdominal surgery, multiple accidental trauma, or acute respiratory failure

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Rotate injection sites; may cause moderate fluid retention and arthralgias (treat symptomatically or reduce dose by 50%); discontinue for up to 5 d for severe toxicity (may reinitiate at 50% of original dose), discontinue permanently is toxicity not resolved with 5 d or recurs; may cause allergic reaction, acute pancreatitis, or glucose intolerance; caution with renal or hepatic impairment

More on Noonan Syndrome

Overview: Noonan Syndrome
Differential Diagnoses & Workup: Noonan Syndrome
Treatment & Medication: Noonan Syndrome
Follow-up: Noonan Syndrome
Multimedia: Noonan Syndrome
References
[ CLOSE WINDOW ]

References

  1. Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. Jun 2002;70(6):1555-63. [Medline].

  2. Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. Jan 2007;39(1):75-9. [Medline].

  3. Pandit B, Sarkozy A, Pennacchio LA, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. Aug 2007;39(8):1007-12. [Medline].

  4. Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet. Mar 2006;38(3):331-6. [Medline].

  5. Carta C, Pantaleoni F, Bocchinfuso G, et al. Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet. Jul 2006;79(1):129-35. [Medline].

  6. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav. Apr 2009;8(3):275-82. [Medline].

  7. Romano AA, Dana K, Bakker B, et al. Growth Response, Near-Adult Height, and Patterns of Growth and Puberty in Patients With Noonan Syndrome Treated With Growth Hormone. J Clin Endocrinol Metab. Apr 28 2009;[Medline].

  8. Binder G. Noonan syndrome, the Ras-MAPK signalling pathway and short stature. Horm Res. Apr 2009;71 Suppl 2:64-70. [Medline].

  9. Allanson JE. Noonan syndrome. J Med Genet. Jan 1987;DA - 19870320(1):9-13. [Medline].

  10. Allanson JE, Hall JG, Hughes HE, et al. Noonan syndrome: the changing phenotype. Am J Med Genet. Jul 1985;21(3):507-14. [Medline].

  11. Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat. Aug 2008;29(8):992-1006. [Medline].

  12. Bader-Meunier B, Tchernia G, Mielot F, et al. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr. Jun 1997;130(6):885-9. [Medline].

  13. Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, et al. Clinical and molecular characterization of 40 patients with Noonan syndrome. Eur J Med Genet. Nov-Dec 2008;51(6):566-72. [Medline].

  14. Marino B, Digilio MC, Toscano A, et al. Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr. Dec 1999;135(6):703-6. [Medline].

  15. Noonan JA. Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child. Oct 1968;116(4):373-80. [Medline].

  16. Noonan JA. Noonan syndrome revisited. J Pediatr. Dec 1999;135(6):667-8. [Medline].

  17. Noonan JA. Noonan syndrome. An update and review for the primary pediatrician. Clin Pediatr (Phila). Sep 1994;33(9):548-55. [Medline].

  18. Qiu WW, Yin SS, Stucker FJ. Audiologic manifestations of Noonan syndrome. Otolaryngol Head Neck Surg. Mar 1998;118(3 Pt 1):319-23. [Medline].

  19. Sharland M, Burch M, McKenna WM, Paton MA. A clinical study of Noonan syndrome. Arch Dis Child. Feb 1992;67(2):178-83. [Medline].

  20. Sharland M, Morgan M, Smith G, et al. Genetic counseling in Noonan syndrome. Am J Med Genet. Feb 15 1993;45(4):437-40. [Medline].

  21. Singer ST, Hurst D, Addiego JE Jr. Bleeding disorders in Noonan syndrome: three case reports and review of the literature. J Pediatr Hematol Oncol. Mar-Apr 1997;19(2):130-4. [Medline].

  22. van der Burgt I, Thoonen G, Roosenboom N, et al. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr. Dec 1999;135(6):707-13. [Medline].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

Noonan syndrome, Noonan's syndrome, hypertelorism, down-slanting eyes, webbed neck, congenital heart disease, congenital heart disease, short stature, chest deformity, polyhydramnios, fetal edema, cystic hygroma, ptosis, strabismus, amblyopia, high nasal bridge, pectus carinatum, pectus excavatum, scoliosis, hepatosplenomegaly, talipes equinovarus, radioulnar synostosis, cervical spine fusion, lymphedema, LEOPARD syndrome, bleeding diatheses, treatment, diagnosis

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Jennifer Ibrahim, MD, Chief, Genetics Division, St Joseph's Children's Hospital
Jennifer Ibrahim, MD is a member of the following medical societies: American Society of Human Genetics
Disclosure: Nothing to disclose.

Coauthor(s)

Margaret M McGovern, MD, PhD, Professor and Chair of Pediatrics, Stony Brook University, New York
Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Genzyme Grant/research funds PI

Medical Editor

Elaine H Zackai, MD, Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia
Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American College of Medical Genetics, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.