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Russell-Silver syndrome

Silver-Russell syndrome; Silver syndrome; RSS

Definition

Russell-Silver syndrome (RSS) is a disorder present at birth involving poor growth. One side of the body may also appear to be larger than the other.

Causes

One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may be due to a problem with 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. Males and females are equally affected.

Symptoms

Symptoms can include:

Birthmarks that are the color of coffee with milk (cafe-au-lait marks)
Large head for body size, wide projecting forehead with a small triangle-shaped face and small, narrow chin
Curving of the pinky toward the ring finger
Failure to thrive, including delayed bone age
Low birth weight
Short height, short arms, stubby fingers and toes
All or part of one side of the body is smaller than the other side (asymmetry)
Stomach and intestine problems such as acid reflux and constipation

Exams and Tests

The condition is usually diagnosed by early childhood. The health care provider will perform a physical exam.

There are no specific laboratory tests to diagnose RSS. Diagnosis is usually based on the judgment of your child's provider. However, the following tests may be done:

Blood sugar (some children may have low blood sugar)
Bone age testing (bone age is often younger than the child's actual age)
Genetic testing (may detect a chromosomal problem)
Growth hormone (some children may have a deficiency)
Skeletal survey (to rule out other conditions that may mimic RSS)

Treatment

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

Making sure the person gets enough calories to prevent low blood sugar and promote growth
Physical therapy to improve muscle tone
Educational assistance to address learning disabilities and attention deficit problems the child may have

Many specialists may be involved in treating a person with this condition. They include:

A doctor specializing in genetics to help diagnose RSS
A gastroenterologist or dietician to help develop the proper diet to enhance growth
An endocrinologist to prescribe growth hormone
A genetic counselor and psychologist

Outlook (Prognosis)

Older children and adults do not show typical features as clearly as infants or younger children. Intelligence may be normal, although the person may have a learning disability. Birth defects of the urinary tract may be present.

Possible Complications

People with RSS may have these problems:

Chewing or speaking difficulty if jaw is very small
Learning disabilities

When to Contact a Medical Professional

Contact your child's provider if signs of RSS develop. Make sure your child's height and weight are measured during each well-child visit. The provider 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

References

Haldeman-Englert CR, Saitta SC, Zackai EH. Chromosome disorders. In: Gleason CA, Juul SE, eds. Avery's Diseases of the Newborn. 10th ed. Philadelphia, PA: Elsevier; 2018:chap 20.

Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13(2):105-124. PMID: 27585961 pubmed.ncbi.nlm.nih.gov/27585961/.

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Review Date: 10/13/2022

Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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