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.
One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it 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. Males and females are equally affected.
- Birthmarks that are the color of coffee with milk (cafe-au-lait marks)
- Curving of the pinky toward the ring finger
- Delayed bone age
- Failure to thrive
- Gastroesophageal reflux disease
- Kidney problems, such as: Horseshoe kidney, Hydronephrosis, Posterior urethral valves, and Renal tubular acidosis
- Low birth weight
- Large head for body size
- Poor growth
- Short arms
- Short height
- Short, stubby fingers and toes
- Delayed stomach emptying, and constipation
- Wide forehead with a small triangle-shaped face and small, narrow chin
Exams and Tests
The condition is usually diagnosed by early childhood. The health care provider 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 health care 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)
- 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)
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
- Special education, 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 Russell-Silver syndrome
- A gastroenterologist or nutritionist to help develop the proper diet to enhance growth
- An endocrinologist to prescribe growth hormone
- A genetic counselor and psychologist
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.
A person with Russell-Silver syndrome may have these problems:
- Chewing or speaking difficulty if jaw is very small
- Learning disabilities
When to Contact a Medical Professional
Call your child's health care provider if signs of Russell-Silver syndrome 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
Silver-Russell syndrome; Silver syndrome
Cooke DW, Divall SA, Radovick S. Normal and aberrant growth. In: Melmed S, Polonsky KS, Larsen PR, and Kronenberg HM. Williams Textbook of Endocrinology. 12th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 24.
Update Date 11/25/2014
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.