Russell-Silver syndrome

Alternative Names

Silver-Russell syndrome; Silver syndrome

Definition of Russell-Silver syndrome

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.

Causes, incidence, and risk factors

An estimated 7 – 10% of patients with this syndrome have a defect called the maternal uniparental disomy (UPD) for chromosome 7. In another 35% of patients, there is an abnormality on chromosome 11 that affects genes important in growth. However, a cause cannot be identified in most patients. Most cases occur in people with no family history of the disease.

Signs and tests

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

Treatment

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

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.

Review

Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. – 12/1/2010

ADAM Medical Encyclopedia

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