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.
An estimated 7 - 10% of patients with this syndrome have a defect 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.
The condition is usually diagnosed by early childhood. The doctor will perform a physical exam. Signs include:
There are no specific laboratory tests to diagnose Russell-Silver syndrome. However, the following tests may be done:
Growth hormone replacement may help if this hormone is lacking. Other treatments include:
Many specialists may be involved in treating this condition:
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.
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.
Silver-Russell syndrome; Silver syndrome