Russell-Silver syndrome

Definition:

A condition of unknown origin, but which is characterized by short stature and frequent asymmetry in the size of 2 halves or parts of the body.

Alternative Names:

Silver Russell syndrome; Silver syndrome

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 sporadic, that is to say, there is no family history in preceding generations/siblings.

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 findings include excessive sweating, a small triangular face which makes the skull look large by comparison, inward curving 5th fingers, and pigmented skin lesions called cafe-au-lait spots.

Symptoms:

slow growth from before birth, intrauterine growth retardation
short stature throughout childhood and at final height
delay in closure of the soft spot on top of the head in infancy
small triangular face with normal head circumference
cafe-au-lait (coffee with milk) colored spots
short and or in-curved 5th fingers

Signs and tests:

Physical examination may show:

delayed closure of anterior fontanel (soft spot)
side to side asymmetry (especially limbs)
curved-in fifth finger (clinodactyly)
normal intelligence
micrognathia or retrognathia (small or "pushed-back" jaw)

Tests:
A glucose tolerance test may show episodes of low blood sugar (hypoglycemia) 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.

Treatment:

There is no specific treatment for Russell-Silver syndrome. Symptoms are treated as necessary. Sometimes growth hormone replacement is recommended, for example in documented growth hormone deficiency, with varying results. Supportive treatment for discrepancy of leg length may prevent problems.

Support Groups:

Little People of America, Inc.

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.

Prevention:

There is no known prevention.

Review Date: 9/10/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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