eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Silver-Russell Syndrome: Follow-up

Author: Robert J Ferry Jr, MD, Chief, Division of Pediatric Endocrinology and Metabolism, Le Bonheur Children's Medical Center, University of Tennessee Health Science Center at Memphis, and St Jude Children's Research Hospital; Field Surgeon (Medical Corps), 162nd Area Support Medical Company, Army National Guard
Contributor Information and Disclosures

Updated: Jun 1, 2009

Follow-up

Further Inpatient Care

  • Patients with Silver-Russell syndrome (SRS) may require hospitalization for enteral tube feeding.

Further Outpatient Care

  • The patient may need home-health services for enteral tube feeding follow-up at home.
  • Early intervention programs and special education classes are beneficial.
  • Feeding, physical, and occupational therapy are beneficial.

Prognosis

  • The prognosis is relatively good.
  • Some patients may have a learning disability.

Patient Education

  • Educate the family regarding the growth and development of these children.

Miscellaneous

Special Concerns

  • Most studies demonstrate that the siblings of children with Silver-Russell syndrome (SRS) do not have the disorder. Therefore, risk for recurrence is expected to be minimal.
  • In some of the cases seen to date, the children of patients with Silver-Russell syndrome do not have the disorder.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors Ainu Prakash-Cheng, MD, PhD; Lawrence A Wetterau, MD; and Margaret M McGovern, MD, PhD, to the development and writing of this article.



More on Silver-Russell Syndrome

Overview: Silver-Russell Syndrome
Differential Diagnoses & Workup: Silver-Russell Syndrome
Treatment & Medication: Silver-Russell Syndrome
Follow-up: Silver-Russell Syndrome
Multimedia: Silver-Russell Syndrome
References
Further Reading
[ CLOSE WINDOW ]

References

  1. [Guideline] Zelop C, Fleischer AC, Andreotti RF, et al. Growth disturbance--risk of intrauterine growth restriction. ACR Appropriateness Criteria. 2007;[Full Text].

  2. Lahiri A, Lester R. Hand anomalies in Russell Silver syndrome. J Plast Reconstr Aesthet Surg. Apr 2009;62(4):462-5. [Medline].

  3. South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. Am J Med Genet A. Oct 15 2008;146A(20):2691-7. [Medline].

  4. Amor DJ, Halliday J. A review of known imprinting syndromes and their association with assisted reproduction technologies. Hum Reprod. Dec 2008;23(12):2826-34. [Medline].

  5. [Best Evidence] Marconi AM, Ronzoni S, Bozzetti P, Vailati S, Morabito A, Battaglia FC. Comparison of fetal and neonatal growth curves in detecting growth restriction. Obstet Gynecol. Dec 2008;112(6):1227-34. [Medline].

  6. Azcona C, Stanhope R. Hypoglycaemia and Russell-Silver syndrome. J Pediatr Endocrinol Metab. Jul 2005;18(7):663-70. [Medline].

  7. Chernausek SD. Treatment of short children born small for gestational age: US perspective, 2005. Horm Res. 2005;64 Suppl 2:63-6. [Medline].

  8. Christoforidis A, Maniadaki I, Stanhope R. Managing children with Russell-Silver syndrome: more than just growth hormone treatment?. J Pediatr Endocrinol Metab. Jul 2005;18(7):651-2. [Medline].

  9. Cutfield WS, Lindberg A, Rapaport R, et al. Safety of growth hormone treatment in children born small for gestational age: the US trial and KIGS analysis. Horm Res. 2006;65 Suppl 3:153-9. [Medline].

  10. Davies PS, Valley R, Preece MA. Adolescent growth and pubertal progression in the Silver-Russell syndrome. Arch Dis Child. Feb 1988;63(2):130-5. [Medline].

  11. Duncan PA, Hall JG, Shapiro LR, Vibert BK. Three-generation dominant transmission of the Silver-Russell syndrome. Am J Med Genet. Feb 1990;35(2):245-50. [Medline].

  12. Eggermann T, Meyer E, Ranke MB, et al. Diagnostic proceeding in Silver-Russell syndrome. Mol Diagn. 2005;9(4):205-9. [Medline].

  13. Eggermann T, Wollmann HA, Kuner R, et al. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet. Sep 1997;100(3-4):415-9. [Medline].

  14. Gicquel C, Le Bouc Y. Hormonal regulation of fetal growth. Horm Res. 2006;65 Suppl 3:28-33. [Medline].

  15. Gicquel C, Rossignol S, Cabrol S. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet. Sep 2005;37(9):1003-7. [Medline].

  16. Graham JM Jr, Rimoin DL. Abnormal body size and proportion. In: Emery and Rimoin's Principle and Practice of Medical Genetics. Vol 1. 1997:737-52.

  17. Jones KL. Russell-Silver syndrome. In: Smith's Recognizable Patterns of Human Malformation. 5th ed. 1997:96-9.

  18. Kotzot D, Schmitt S, Bernasconi F, et al. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet. Apr 1995;4(4):583-7. [Medline].

  19. Lacassie Y, Arriaza MI, Vargas A, La Motta I. Ring 2 chromosome: ten-year follow-up report. Am J Med Genet. Jul 16 1999;85:117-22. [Medline].

  20. Lai KY, Skuse D, Stanhope R, Hindmarsh P. Cognitive abilities associated with the Silver-Russell syndrome. Arch Dis Child. Dec 1994;71(6):490-6. [Medline].

  21. Langlois S, Yong SL, Wilson RD, et al. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet. Nov 1995;32:871-5. [Medline].

  22. Li CC, Chodirker BN, Dawson AJ, Chudley AE. Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome?. Clin Dysmorphol. Apr 2004;13(2):95-8. [Medline].

  23. Midro AT, Debek K, Sawicka A, et al. Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. Clin Genet. Jul 1993;44(1):53-5. [Medline].

  24. Monk D, Bentley L, Hitchins M, et al. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum Genet. Oct 2002;111(4-5):376-87. [Medline].

  25. Monk D, Wakeling EL, Proud V, et al. Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. Am J Hum Genet. Jan 2000;66(1):36-46. [Medline].

  26. Moore GE, Abu-Amero S, Wakeling E, et al. The search for the gene for Silver-Russell syndrome. Acta Paediatr Suppl. Dec 1999;433:42-8. [Medline].

  27. Preece MA, Price SM, Davies V, et al. Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet. Jan 1997;34(1):6-9. [Medline].

  28. Price SM, Stanhope R, Garrett C, et al. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet. Nov 1999;36(11):837-42. [Medline].

  29. Rakover Y, Dietsch S, Ambler GR, et al. Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW). Eur J Pediatr. Oct 1996;155(10):851-7. [Medline].

  30. Ramirez-Duenas ML, Medina C, Ocampo-Campos R, Rivera H. Severe Silver-Russell syndrome and translocation. Clin Genet. Jan 1992;41(1):51-3. [Medline].

  31. Rizzo V, Traggiai C, Stanhope R. Growth hormone treatment does not alter lower limb asymmetry in children with Russell-Silver syndrome. Horm Res. 2001;56(3-4):114-6. [Medline].

  32. Rossignol S. Silver-Russell syndrome and its genetic origins. J Endocrinol Invest. 2006;29(1 Suppl):9-10. [Medline].

  33. Russell A. A syndrome of "intrauterine dwarfism" recognisable at birth with craniofacial dysostosis, disproportionately short arms and other abnormalities (5 examples). Proc Royal Soc Med. 1954;47:1040-4.

  34. Schlegel D, Arcona A, Morgan J, Hatt C. Silver-Russell syndrome: a case study of neuropsychological deficits in a 8-year-old male. Arch Clin Neuropsychol. Nov 2000;15(8):790-1.

  35. Shuman C, Weksberg R, Nedelescu R. Chromosome 7 uniparental disomy in Russell-Silver Syndrome. Am J Hum Genet. 1996;59S:A284(1648).

  36. Silver HK, Kiyasu W, George J. Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotropins. Pediatrics. 1953;12:368-75.

  37. Spence JE, Perciaccante RG, Greig GM, et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet. Feb 1988;42(2):217-26. [Medline].

  38. Spotila LD, Sereda L, Prockop DJ. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet. Dec 1992;51(6):1396-405. [Medline].

  39. Stanhope R, Albanese A, Azcona C. Growth hormone treatment of Russell-Silver syndrome. Horm Res. 1998;49 Suppl 2:37-40. [Medline].

  40. Tanner JM, Lejarraga H, Cameron N. The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases. Pediatr Res. Aug 1975;9(8):611-23. [Medline].

  41. van Haelst MM, Eussen HJ, Visscher F, et al. Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome. J Med Genet. Aug 2002;39(8):582-5. [Medline]. [Full Text].

  42. Voss R, Ben-Simon E, Avital A, et al. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?. Am J Hum Genet. Sep 1989;45(3):373-80. [Medline].

  43. Wakeling EL, Abu-Amero S, Price SM, et al. Genetics of Silver-Russell syndrome. Horm Res. 1998;49 Suppl 2:32-6. [Medline].

  44. Wollmann HA, Kirchner T, Enders H, et al. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr. Dec 1995;154(12):958-68. [Medline].

  45. Yoshihashi H, Maeyama K, Kosaki R, et al. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Am J Hum Genet. Aug 2000;67(2):476-82. [Medline]. [Full Text].

[ CLOSE WINDOW ]

Further Reading

  • A recent study compared fetal and neonatal growth curves in detecting growth restriction. 5

[ CLOSE WINDOW ]

Keywords

Silver-Russell syndrome, SRS, Russell-Silver syndrome, Silver-Russell dwarfism, Silver syndrome, growth retardation, intrauterine growth retardation, facial dysmorphism, learning disability, camptodactyly, clinodactyly, fasting hypoglycemia, triangular facies, low birthweight, developmental delay, poor head control, language impairment, craniopharyngioma, testicular seminoma, hepatocellular carcinoma, Wilms tumor, hypospadias, assisted reproduction technologies, treatment, diagnosis

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Robert J Ferry Jr, MD, Chief, Division of Pediatric Endocrinology and Metabolism, Le Bonheur Children's Medical Center, University of Tennessee Health Science Center at Memphis, and St Jude Children's Research Hospital; Field Surgeon (Medical Corps), 162nd Area Support Medical Company, Army National Guard
Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society
Disclosure: Nutropin Speakers Bureau Honoraria Speaking and teaching; Genotropin Speakers Bureau Honoraria Speaking and teaching; Eli Lilly & Co. Grant/research funds Independent contractor; MacroGenics, Inc. Grant/research funds Independent contractor; Ipsen, S.A. (formerly Tercica, Inc.) Grant/research funds Independent contractor

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 and Rehabilitation, 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.