This page was written during a Technical Writing course in 2002. The contents of this page are intended to be used for informational reference only, and does not constitute medical advice, nor should any medical credence be placed on the information here. Please email me or take a look at my references at the end of this page for further information.
Table of Contents
|List of figures|
|How to use this manual|
|Chapter 2: Dealing
with Russell-Silver syndrome
|Chapter 3: My own experiences with Russell-Silver syndrome
List of Figures
|Figure 1: Typical growth chart showing height and weight|
How to use this manual
I created this manual for two distinct purposes. First, I
wanted to have a way to inform those who were unaware of
Russell-Silver syndrome. Second, and most important, I wanted to
create an informative and concise summary of Russell-Silver
syndrome for parents with newly born or diagnosed RSS children. I
intend this manual to an overview of the syndrome. If you want
more detailed information on this subject, I you can research
more on your own. The bibliography located at the end of this
manual can get you started on the right track. If, in the
course of reading this manual, you run across words you don't
know, please refer to the glossary on page 21. You may wish to
glance over the glossary first is you are unfamiliar with medical
terminology related to dwarfism and Russell-Silver syndrome.
Chapter 1: Defining Russell-Silver Syndrome
When the average American thinks of a dwarf, they usually picture a person with a normal sized torso and head, but with shortened limbs, looking like the characters from the movie Willow. This type of dwarfism, known as Acondroplasia, is only one of the nearly 300 diagnosable dwarfisms known to modern medicine. Russell-Silver syndrome is another type of dwarfism, although less common. Both Dr. A. Russell and Dr. H. K. Silver first diagnosed Russell-Silver syndrome (abbreviated RSS) separately in the mid 1960's. The two doctor's findings were later combined to one diagnoses. Sometimes doctors refer to Russell-Silver syndrome as Silver-Russell syndrome. I will get into the differences in these names later.
At this time, scientist
do not know for certain what gene causes Russell-Silver syndrome,
but they have come up with a few theories. As scientists near the
finish of the Human Genome Project, hopefully they will have a
clearer answer soon. We do know, however, that RSS is caused by
some mutation of genes. Also, Russell-Silver syndrome is not
caused by anything the mother did during pregnancy. Parents must
realize this as many of them feel unnecessary guilt upon finding
out their child has RSS.
Over the years, many people were diagnosed with Russell-Silver syndrome mistakenly. This leads to inaccurate statistical data about the syndrome. Even so, there exist standard diagnostic symptoms which can help determine if a child has Russell-Silver syndrome. Not all Russell-Silver individuals will show all these traits. Some show many, and others show only a few. Asymmetry is a trait of RSS. Some doctors, however, reserve the name Silver-Russell syndrome (SRS) for those with asymmetry and Russell-Silver syndrome for those without asymmetry.
- Triangular face (Craniofacial disproportion)
- Down turned corners of mouth (shark mouth)
- Incurved fifth digit (clinodactyly), and usually shorter digit than normal
- Short birth length/ low birth weight
- Long, narrow head (Scaphocephaly)
- Post natal growth retardation
- Full term gestation
- Body Asymmetry
- Growth Hormone Deficiency
- Late closer of the fontanel
- Small chin (hypoplastic mandible) and small, crowded teeth (microdontia)
- Low set, small, or prominent ears
- Delays in bone age and muscle tone
Less common traits:
- Cafe-au-lait spots
- High palate arch
- Blue sclerae
Some doctors also include Attention Deficit Disorder (ADD), high energy, and migraine headaches. Nearly all doctors agree, however, that mental retardation is not a trait of Russell-Silver syndrome. Because RSS has been used as a diagnoses for non-RSS individuals in some cases, actual diagnosable traits differ according to the individual medical opinions.
Also, recent developments in medicine have brought a genetic test for Russell-Silver syndrome. The test must take place before the child reaches the age of 5, and involves looking at a sample of skin cells. This test, however, does not guarantee accurate results yet. Perhaps in the future, improvements can make the test more accurate and efficient.
Chapter 2: Dealing with Russell-Silver Syndrome
Once you receive a diagnosis, a certain feeling of relief sets in. Now you know what syndrome your child has, and can begin treating and dealing with it. Early childhood seems the hardest part, but after the child grows up, many of the Russell-Silver traits begin to appear less noticeable. With medical treatments, an individual with RSS can live a full an almost entirely normal life.
Something the mother did during pregnancy caused the child to have Russell-Silver syndrome
Many parents have a sense of guilt when they find that their child has Russell-Silvers syndrome. Parents need to understand that nothing they did caused their child to have RSS. Doctors attribute Russell-Silver syndrome to either genetic mutation or inheritance of such a mutation. Some doctors speculate that the inheritance of the RSS gene is from the X chromosome.
Growth hormone therapy will not work on individuals with Russell-Silver syndrome
Some doctors reason that because RSS does not have true growth hormone deficiency, growth hormone therapy will not work. While scientists are still conducting studies, there are too many cases of growth hormone working to deny it works. I, for one, am a success story for growth hormone therapy.
Misconceptions with Terminology
As with any abnormality or handicap, there are correct and incorrect ways to refer to dwarfism, and Russell-Silver syndrome. Some people say that a 'dwarf' is an individual with an average sized torso and head, but shorter limbs, while a 'midget' is an individual with proportional short stature. There are even some medical journals that use this terminology. However, Acondroplasia is the only type of dwarfism that fits that use of the word 'dwarf'. As stated earlier, there are over 300 types of dwarfisms. The term 'midget' is considered extremely offensive to many dwarfs, no matter the difference in bodily proportions. 'Midget' came from a circus term, and you should never refer to a dwarf as a 'midget'. In fact, some individuals feel that the word 'dwarf' is equally offensive.. 'Dwarfism', however is a term commonly used in medicine. If you are unsure, though, the politically correct phrase would be 'vertically challenged'.
Thanks to the wonderful world of modern medicine, there are a variety of choices in treatment for Russell-Silver syndrome. RSS, however, is not a disease, and therefore there is no such thing as a cure. These treatments simply allow an individual with RSS to get closer to the average height and weight, and to fix problems such as asymmetry. As with all medical treatments, please consult with your doctor and/or endocrinologist about what methods will work best.
- Growth Hormone Therapy
- Periactin (used to increase appetite)
- Gastrostomy (G-Tube)
- Limb Lengthening/ Shoe lifts
- High calorie diet
- Speech/ physical therapy
Growth Hormone Therapy
In new born children, most of the bones in their body are in a cartilage form. As an individual ages, this cartilage slowly turns into bone. When the bones become solid, growth stops. After this, the body uses the normally produced growth hormone to convert fat tissue into muscle tissue. Growth hormone therapy accelerates the growth of the child while the child's bones still have the cartilage.
One of the bodily hormones that the pituitary gland produces is growth hormone. Growth hormone therapy is usually used with individuals who do not produce normal amounts of growth hormone (growth hormone deficient). Recently, though, doctors have used it in those short statured individuals whose body already produces growth hormone. The growth hormone is administered by injection usually once per day. Periactin often complements growth hormone therapy by providing more nutrients and fatty tissue for the additional growth hormone to work with. Most doctors will say that not enough data exists yet to conclude whether growth hormone therapy works in with RSS, but it has worked in some individuals.
Figure 1: Typical growth chart showing height (top curve) and weight (bottom curve)
Periactin is an appetite stimulant. As Russell-Silver dwarfs have very low body weights, this helps to gain fat tissue. This may seem ironic, as most Americans try to get rid of fat tissue, but fat tissue is a necessity and RSS individuals barely have any naturally. Often the Periactin accompanies growth hormone therapy.
Commonly called a G-tube, gastrostomy also helps to gain necessary weight. Doctors often use it on only very young children. Basically, it is a tube running into the stomach through which a machine can pump in food. Although this treatment may seem uncomfortable, the potential results can outweigh the minor discomforts.
Limb Lengthening and Shoe Lifts
Both of these are used to correct asymmetry associated with Russell-Silver syndrome. Leg lengthening is a surgical procedurein which doctors cut the bone in the shorter limb, and then brace it with a small gap so that when the bone heals, it is longer. Shoe lifts offer a much simpler and cheaper alternative, but do not solve the problem entirely.
High Calorie Diet
This is a simple treatment that works well when Periactin and Gastrostomy are either not desired or not needed.
Speech and Physical Therapy
By nature, Russell-Silver dwarfs have a weak muscle tone. This can effect everything from walking to speech development. Therefore, speech and physical therapy can help a child with RSS develop in those areas at a pace closer to their peers.
A person with Russell-Silver syndrome can live a full and
healthy life. Size is the only difference. However, society does
not accept those who are physically different as much as we would
like them to. Growing up so much shorter than your peers is
tough. Other kids often smaller children because of their short
stature. Even after growing up, short statured people face many
challenges, both physically and socially. Unfortunately, there
exits no cure for these ailments in society. The best thing to do
when faced with these challenges is to work on self-esteem and
self image. If a person of short stature is only told that they
are inferior because of their height, they will begin to believe
that. If, however, they realize that their different height is
not a big problem, their outlook on life is much better. People
come in all shapes and sizes. A person determined to succeed will
succeed, even with obstacles like height in the way.
Chapter 3: Living with Russell-Silver Syndrome
Who I am
Let me briefly tell you about myself as a dwarf with Russell-Silver syndrome. In many ways, you could say I am a success story. I was born in California in 1980 weighing only 3lbs 7 oz. Even though this was more than fifteen years after Dr. Russell and Dr. Silver first diagnosed RSS, it was not common knowledge. Only some doctors know about RSS even today. For the first year of my life, I was put through dozens of tests for virtually every medical problem that could cause my small size and other features. Then, someone suggested that they look into the possibility of Russell-Silver syndrome. Upon visiting with a specialist, we had a definite diagnosis of RSS.
The early years
The early years of my life were the hardest, as I am told. I believe it was harder for my parents than for me, though. Due to weak muscle tone and slow muscle development associated with RSS, I could not speak until nearly two, did not walk fully until nearly three years old. Other people never could get my age right. Many thought I was extremely developed for a baby of 16 months when I was nearly three. Some people, including a few doctors, thought that my parents were negligent or something to cause my short stature and extremely low weight. I can only imagine how hard this was, as none of it could have been prevented because RSS is genetic.
The school years
School was quite an adventure. Many things that most people
take for granted became a challenge for me; from using the
drinking fountain to carrying my lunch tray. In the early
elementary grades, I the school had a desk lowered specially to
fit me, as well as a small stepping stool stored near the water
fountains. In figure 3 below, you can see the vast size
difference between my peers and I when I was in the first grade.
The biggest challenge, however, was not physical, as I was used
to that; it was the teasing. Every kid receives teasing in
school, but especially when you are a good foot shorter than
everyone else. My parents did an extremely good job at teaching
me how to deal with it though. Its important to understand that
psychologically, people tease others in an attempt to raise their
own self esteem. After a while, I was not offended by teasing
much, and tried to laugh with them.
Growth Hormone Therapy
Genetically, I am a Russell-Silver dwarf. Now, however, I am 5'3". This makes explaining that I am a dwarf to some people a bit tricky. I will remain shorter than the average person forever, but I am much taller than if I had not undergone Growth Hormone Therapy (GHT). Right before I was of the age to begin growth hormone therapy, the FDA pulled it from the market. Back then doctors used real human growth hormone, and the new awareness of fluid born pathogens caused them stop selling human growth hormone. Then, when I was seven, a company called Genentech came out with a genetically engineered human growth hormone called Protropin. I took Protropin for over nine years, until I could grow no taller. By age twelve, I was able to self administer the shots, which helped when I went on trips with church and Boy Scouts.
I am now a college student in Texas working for my computer
science major. At the height of 5'3", I am tall enough that
my height is no longer an issue that comes up often. I am a
strong believer in the philosophy that a person can do anything
they put their mind to. Shortness may pose a
challenge and a different perspective, but is not a real problem.
As a society, we can achieve new great things only through those
who look at the world differently.
"Dwarfism" http://www.dwarfism.org 2/29/2000
Lee, Phillip M.D. E-mail correspondence. 8 March, 1998
"Russell-Silver Syndrome" http://www.magicfoundation.org/rss.html 2/29/2000
"Russell-Silver Syndrome" http://www.pubmed.com
Acondroplasia - a type of dwarfism in which the limbs are proportionally smaller than the head and torso
ADD - Attention Deficit Disorder
ADHD - Attention Deficit Hypertension Disorder
Asymmetry - left side body part is not symmetrical to right side
Bone Age - taken by a bone x-ray to determineamount of change from cartilage to bone, as compared to chronological age
Cafe-au-lait - cream or coffee colored oval spots
Clinodactyly - incurving of the digit (finger)
Craniofacial disproportion - with RSS, the triangular facial shape
Dwarf - person of short stature. There are over 300 types of dwarfisms
Endocrinologist - a doctor of medicine specializing in the endocrine system.
Fontanel - 'soft spot' on the top of the baby's head after birth
Growth Hormone Deficiency (GHD) - condition where the pituitary gland secretes little or no growth hormone
Growth Hormone Therapy (GHT) - treatment of extra growth hormone to stimulate faster growth
Gastrostomy (G-Tube) - a feeding tube inserted into the stomach to increase calorie intake
Growth Chart - graph showing the statistical averages of growth versus the individuals growth over a period of time.
Hypoglycemia - condition where the blood sugar level goes below normal.
Hydrocephalus - fluid in the skull cavity, especially in newborns.
IUGR - Intrauterine Growth Retardation
Microdontia - small teeth
Midget - offensive term for short statured individuals, derived from a circus term
Periactin - prescription drug used to stimulate appetite
Pituitary Gland - gland located at the base of the brain. Produces growth hormone among other hormones
Protropin - genetically engineered growth hormone
Russell, Dr. A. - one of the medical doctor who diagnosed what became RSS in the 1960's
Russell-Silver syndrome (RSS) - type of dwarfism first diagnosed in the 1960's by Dr. Russell and Dr. Silver. Traits include proportionally short stature, triangular face, and incurved fifth digit.
Sclerae, Blue - blue tint to the whites of the eyes. A trait of RSS new-borns
Scoliosis - abnormal curvature of the spinal chord
Silver, Dr. H. K. - one of the medical doctor who diagnosed what became RSS in the 1960's
Silver-Russell syndrome (SRS) - see Russell-Silver syndrome. SRS is usually used for RSS individuals with asymmetry.
Scaphocephaly - long, narrow head, especially at birth
Syndactylism - webbed toes