Russell-Silver syndrome

Alternative names 
Silver-Russell syndrome; Silver syndrome

Definition
Rusell-Silver syndrome is a congenital disease (present at birth) characterized by short stature and, frequently, asymmetry in the size of the two halves or other parts of the body.

Causes, incidence, and risk factors

Genetic problems are thought to cause this syndrome, although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined, but in most cases it seems to occur without any family history of the condition.

Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common. For example, a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face.

Other characteristics include excessive sweating, a small triangular face that makes the skull look large by comparison, inward curving 5th fingers, and colored spots on the skin called cafe-au-lait spots.

Symptoms

     
  • slow growth before birth  
  • short stature throughout childhood and at final height  
  • cafe-au-lait (coffee with milk) colored spots  
  • severe feeding problems in childhood (reflux disease, food aversion, failure to thrive)

Signs and tests
A physical examination may show:

     
  • delayed closure of anterior fontanel (soft spot)  
  • side to side asymmetry (especially limbs)  
  • curved-in fifth finger (clinodactyly)  
  • normal intelligence  
  • small or “pushed-back” jaw (micrognathia or retrognathia )  
  • small triangular face with normal head circumference

Tests include:

     
  • A glucose tolerance test may show episodes of low blood sugar when fasting.  
  • Skeletal X-rays may show a discrepancy (delay) between “bone age” (the age that the bones appear) and the actual age or sexual development.  
  • A karyotype (examination of a person’s chromosomes under a microscope) is frequently ordered. About 10% of patients will have 2 copies (instead of 1) of their mother’s chromosome 7 (a situation called maternal uniparenal disomy). Rarely, duplication of genes in a certain area of the chromosome 7 inherited from the mother is seen.

Treatment
There is no specific treatment for Russell-Silver syndrome. Symptoms are treated as necessary. Sometimes growth hormone replacement is recommended if a growth hormone deficiency is discovered. This has had varying results. Supportive treatment for discrepancy of leg length may prevent problems.

Support Groups

Additional resources are available from Little People of America (888-572-2001) and MAGIC Foundation for Children’s Growth (800-362-4423).

Expectations (prognosis)
As the child ages, many will improve in growth and appearance. There is normal intelligence.

Complications

     
  • self esteem and emotional problems related to appearance  
  • chewing or speaking difficulty if jaw is very small  
  • there may be an increased risk for tumors of the liver

Calling your health care provider
There may be some indications of this condition at birth. Call your health care provider if your child does not seem to be growing normally and has asymmetry of body parts or in-turned 5th fingers.

Johns Hopkins patient information

Last revised: December 5, 2012
by Potos A. Aagen, M.D.

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