Health Encyclopedia

Russell-Silver syndrome

Definition

Russell-Silver syndrome is a disorder present at birth that involves poor growth, low birth weight, short height, and differences in the size of the two sides of the body.

Alternative Names

Silver-Russell syndrome; Silver syndrome

Causes, incidence, and risk factors

It is estimated that 7-10% of patients with this syndrome have a defect in a gene called the maternal uniparental disomy (UPD) for chromosome 7. However, a cause can not be identified for most patients. Most cases occur in a person whose family has no history of the disease.

The features associated with Russell-Silver syndrome have been linked to many other genetic problems such as:

Chromosome rearrangements
Autosomal dominant and recessive families (rarely reported)
Abnormal methylation of chromosome 11p15

The estimated number of people who develop this condition varies greatly. Some say it affects about 1 in 3,000. Other reports say it affects 1 in 100,000 people. Males and females are equally affected.

Symptoms

Low birth weight
Poor growth
Short height (stature)
Delayed bone age
Normal width of head
Wide forehead with a small triangle-shaped face and small, narrow chin
Arms and legs of differing lengths
Curving of the pinky toward the ring finger
Short, stubby fingers and toes
Cafe-au-lait (coffee with milk) colored spots
Arm span less than height (short arms)
Kidney problems, such as:
- Hydronephrosis
- Renal tubular acidosis
- Posterior urethral valves
- Horseshoe kidney
Gastroesophageal reflux disease
Swelling of the esophagus (food pipe)
Failure to thrive Failure to thrive

Signs and tests

The condition is usually diagnosed no later than early childhood. The doctor will perform a physical exam. Signs include a:

Triangle-shaped face with broad forehead
Small, pointed chin
Thin, wide mouth

There are no specific laboratory tests for the diagnosis of Russell-Silver syndrome. However, the following tests may be done:

Blood sugar
Growth hormone
Skeletal survey, to rule out other conditions that may mimic Russell-Silver syndrome
Chromosome testing
Bone age testing

Treatment

Growth hormone replacement may help if the patients lacks this hormone. Other treatments include:

Making sure the person gets enough calories
Physical therapy
Special education

Many specialists may be involved in the treatment of this condition. A doctor specializing in genetics can help with the diagnosis of Russell-Silver syndrome. A gastroenterologist or nutritionist can help develop the proper diet to enhance growth. If growth hormone is needed, a visit to an endocrinologist may be considered.

Expectations (prognosis)

Older children and adults do not show typical features as clearly as infants or younger children. Intelligence may be normal, although the patient may have a learning disability.

Complications

Self esteem and emotional problems related to appearance
Chewing or speaking difficulty if jaw is very small
Learning disabilities

Calling your health care provider

Call your health care provider if signs of Russell-Silver syndrome develop.

Review Date:12/12/2006
Reviewed By:Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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