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.

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.

• 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

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

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.

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.

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

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