Russell-Silver syndrome is a disorder present at birth involving poor growth. One side of the body also will appear to be larger than the other.
Silver-Russell syndrome; Silver syndrome
Causes, incidence, and risk factors
Up to 1 in 10 children with this syndrome have a problem involving chromosome 7. In other patients, the syndrome may affect chromosome 11.
Most of the time, it occurs 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 can include:
- Birthmarks that are the color of coffee with milk (
- Curving of the pinky toward the ring finger
- Delayed bone age
Failure to thrive Gastroesophageal reflux disease
- Kidney problems, such as:
- Horseshoe kidney
- Posterior urethral valves
Renal tubular acidosis
- Low birth weight
- Large head for body size
- Poor growth
- Short arms
- Short height (stature)
- Short, stubby fingers and toes
- Delayed stomach emptying, and constipation
- 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:
- Pointed chin that is not fully developed
- Thin, wide mouth
- Triangle-shaped face with broad forehead
There are no specific laboratory tests to diagnose Russell-Silver syndrome. Diagnosis is usually based on the judgment of your child’s pediatrician. However, the following tests may be done:
Blood sugar(some children may have low blood glucose)
- Bone age testing (bone age is often younger than the child’s actual age)
- Chromosome testing (may detect a chromosomal problem)
Growth hormone(some children may have a deficiency) Skeletal survey(to rule out other conditions that may mimic Russell-Silver syndrome)
Making sure the person gets enough calories, to prevent low blood sugar and promote growth
Physical therapy, to improve muscle tone
Special education, to address learning disabilities and
attention deficit problemsthe child may have
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.
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.
- Chewing or speaking difficulty if jaw is very small
- Learning disabilities
Calling your health care provider
Call your health care child’s provider if signs of Russell-Silver syndrome develop. Make sure your child’s height and weight is measure during each well child visit. The doctor may refer you to:
- A genetic professional for a full evaluation and chromosome studies
- A pediatric endocrinologist for management of your child’s growth problems