Russell-Silver Syndrome, also known as Russell Syndrome, Silver Syndrome, and/or Silver-Russell Syndrome, is a disorder characterized by short-stature (dwarfism), a triangular face, low set ears, and a curved fifth finger. This condition was discovered in 1953 by Dr. H. K. Silver and in 1954 by Dr. A. Russell. While both men discovered these strange occurrences independently, they heard of each other’s findings, and eventually collaborated with each other. While the afore mentioned characteristics often describe one afflicted with the syndrome, there is a large number of other (possibly unrelated) characteristics found in individuals with the disorder.
Some additional characteristics/traits of Russell-Silver Syndrome:
- Low birth weight
- Decreased birth length (gestation)
- Poor appetite
- Hypoglycemia (usually only in ages 2-3)
- Asymmetry (either by length or height)
- Broad forehead
- Prolonged presence of "soft spot" as an infant
- Small chin
- Down turned corners of the mouth (appears to frown)
- Thin upper lip
- Crowded teeth
- Small teeth
- A very high pitched voice
- Webbed feet
- Abnormal urethral opening
- Undescended testicles
- Late development of bones
- Weak muscles
- A blue tinge in the whites of the eyes
- Frequent ear infections
- Frequent migraines
- Vertebral abnormalities/scoliosis
- Early puberty
- Deficiency of growth hormones
- Cafe-au-lait spots (small cream or coffee colored, oval spots)
- Abundance of energy
- Frequent passing out spells
- Excessive sweating
While a definite cause of this disorder has not yet been found, it is believed to be genetic, yet not necessarily hereditary. This leads doctors to believe the genes responsible for this to be a mutation of other genes. Doctors now believe that they have isolated the chromosome where this mutation occurs. Because of the unknown origin, there are currently no known ways to prevent Russell-Silver Syndrome.
As of yet, there is no cure for Russell-Silver Syndrome. However, there are many things that can be done for some of the resulting effects of the disorder. For example, if someone has legs of different lengths (due to leg asymmetry), then operations can be done to shorten the longer of the two legs. However, this is an extreme measure, that is normally used after growth hormones have failed, or proven inadequate. Another problem may have to do with a dangerously low caloric intake. This can be solved with a change in diet, or feeding pumps.
Overall, it is expected that those with Russell-Silver Syndrome, given that they realize they have this condition and seek medical attention, will adapt to their disorder, and grow up to be "happy"*, "normal"* adults. To help the families of those with this condition, there are many support groups available. One organization specializing in cases of Russell-Silver Syndrome is The MAGIC Foundation For Children's Growth.
* This may actually happen, but I really hate these two terms as they are extremely subjective, and hold a different meaning for every person.