Silver-Russell Syndrome Treatment & Management

Updated: Oct 31, 2017
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Treatment

Approach Considerations

A medical home with a multidisciplinary care facility is ideal for patients with Silver-Russell syndrome. Usually, a team may include clinical genetic counselors; dietitians and gastroenterologists, for feeding issues and failure to thrive; endocrinologists for short stature and puberty; speech therapists for delay; and orthopedists for scoliosis, but it can be tailored according to the patient's specific symptoms and needs.  

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Medical Care

Growth

Significant effort must be undertaken to optimize caloric intake during evaluation of growth. Careful monitoring of linear growth after optimizing caloric intake is critical for early diagnosis of catch-up growth failure by 2 years of age and early intervention with recombinant human growth hormone (rhGH) for maximizing final adult height. Without treatment, mean adult height may be 151.2 cm (59.5 in) in males and 139.9 cm (55.1 in) in females. [13]

GH was approved in the United States in 2001 by the US Food and Drug Administration for use in children born SGA who have not yet manifested adequate catch-up growth by age 2 years. GH is given via daily subcutaneous injections. The recommended starting dose is 0.24 mg/kg/wk, but the dose can be titrated up to 0.48 mg/kg/wk, according to the response. A study by Smeets et al demonstrated that in SGA children who underwent GH treatment, patients with Silver-Russell syndrome achieved height gains similar to those in subjects without Silver-Russell syndrome. Height gain tended to be greater in Silver-Russell syndrome patients with mUPD7 than in those with 11p15 defects. Greater height gain was also seen in children with idiopathic Silver-Russell syndrome. [14]

Development

An early intervention program, including physical therapy, is beneficial. Special education courses are needed when the child is older.

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Surgical Care

Consider enteral feeding if the patient does not tolerate oral feeding and has severe failure to thrive. Nasogastric or percutaneous endoscopic gastrostomy (PEG) feeds are needed to facilitate growth and maintenance.

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Consultations

See the list below:

  • Consult a clinical geneticist to differentiate Silver-Russell syndrome from etiologies of growth retardation, asymmetry, and other clinical findings.
  • Consult a gastroenterologist or nutritionist to optimize caloric intake and enhance growth and feeding therapy.
  • Developmental evaluation places the patient in early intervention, special education programs, physical therapy, and occupational therapy as early as possible.
  • Consult a pediatric endocrinologist to consider the use of rhGH in an infant nearing age 2 years who has not manifested adequate catch-up growth. Other endocrine issues that need close monitoring include premature adrenarche and precocious puberty. 
  • Consult an ophthalmologist to identify refractive errors and other abnormalities of vision commonly associated with Silver-Russell syndrome.
  • Consult a neurologist if there is any concern that myoclonus dystonia, commonly seen in mUPD7, is present. 
  • Monitor scoliosis and consult an orthopedist, especially if the child is on growth hormone therapy. 
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Diet

See the list below:

  • Patients should have a nutritional evaluation to provide optimal calories for growth. As stated previously, nasogastric or PEG feeding may be required.
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