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

An estimated 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 cannot be identified in most patients. Most cases occur in people with no family history of the disease.

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

Symptoms

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

Signs and tests

The condition is usually diagnosed by early childhood. The doctor will perform a physical exam. Signs include:

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

There are no specific laboratory tests to diagnose Russell-Silver syndrome. However, the following tests may be done:

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

Treatment

Growth hormone replacement may help if this hormone is lacking. Other treatments include:

Making sure the person gets enough calories
Physical therapy
Special education

Many specialists may be involved in treating this condition:

A doctor specializing in genetics can help diagnose Russell-Silver syndrome.
A gastroenterologist or nutritionist can help develop the proper diet to enhance growth.
An endocrinologist may prescribe growth hormone, if it is needed.
Genetic counselors and psychologists may also be involved.

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. The doctor may refer you to a genetic professional for a full evaluation and chromosome studies.

Review Date:10/15/2008
Reviewed By:Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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