Growth Disorders: Russell-Silver Syndrome

Russell-Silver syndrome is a disorder present at birth that involves poor growth, low birth weight, short height, and differences in the size of the two sides of the body. Silver-Russell dwarfism or Russell-Silver syndrome (RSS) is a growth disorder occurring in approximately 1/50,000 to 1/100,000 births. In the United States it is usually referred to as Russell-Silver Syndrome, and Silver-Russell Syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism and is one of the few forms that is considered treatable in some cases. There is no statistical significance of the syndrome occurring in males or females.

Its exact cause is unknown, but present research points toward a genetic component, possibly following maternal genes. It involves hypomethylation of H19 and IGF2

One interesting and important aspect of the Russell-Silver syndrome is its variation in phenotype. The phenotype is all the physical characteristics and abnormalities found in an individual patient that are attributed specifically to Russell-Silver Syndrome. Some individuals with Russell-Silver Syndrome have many traits, thus a severe phenotype, while others have very few traits, thus a mild phenotype.

When first described, Russell-Silver syndrome was NOT thought to be a genetic disorder because it recurred within families rarely, and when it did recur, its pattern of transmission failed to follow a consistent genetic mode of inheritance. More recent understandings of genetic mechanisms have led scientists to conclude that Russell-Silver syndrome is genetic, but its genetics are not simple. Scientists now believe that the RSS phenotype is associated with more than one genotype.

A genotype is the status of a specific gene at a specific location on a specific chromosome. Therefore, an abnormal genotype means there has been a specific alteration, such as a deletion, duplication, insertion, substitution or imprinting error within the code of a specific gene located at a specific site in an individual’s genetic code.

Since our genotype is responsible for our phenotype, abnormal genotypes result in abnormal phenotypes. If we assume several genotypes for Russell-Silver Syndrome, then we should not be surprised at a variety of phenotypes. We view this as one reason for the marked variability within the group of patients considered to have Russell-Silver syndrome (RSS). But deciding which child should be considered to have Russell-Silver syndrome is not always easy. When more is known about the genetics of Russell-Silver syndrome, we will find that some patients were incorrectly included while others were incorrectly excluded.

An estimated 7 – 10% of patients with this syndrome have a defect called the maternal uniparental disomy (UPD) for chromosome 7. In another 35% of patients, there is an abnormality on chromosome 11 that affects genes important in growth. However, a cause cannot be identified in most patients. Most cases occur 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

  • Arms and legs of different lengths
  • Coffee-with-milk (cafe-au-lait) colored spots
  • 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
  • Renal tubular acidosis
  • Low birth weight
  • Normal width of head
  • Poor growth
  • Short arms
  • Short height (stature)
  • Short, stubby fingers and toes
  • Swelling of the food pipe (esophagus)
  • Wide forehead with a small triangle-shaped face and small, narrow chin

Diagnosis

  • The diagnosis of Russell-Silver syndrome is still a judgment call on a physician’s part because there is no definitive laboratory test that can answer yes or no in a specific case. Doctors generally base their diagnosis on characteristic, clinical findings that make up the RSS phenotype. It is easy to diagnose the “textbook” RSS phenotype. A Small for Gestational Age child, however, who lacks catch-up growth, has low weight-for-height, normal head size for age, and few, if any, features that make him look different, is much more difficult to classify.
  • Although confirmation of a specific genetic marker is in a significant number of individuals, there are no tests to clearly determine if this is what a person has. The syndrome is usually caused by a maternal uniparental disomy (UPD) on chromosome 7, in 10% of the cases, which is an imprinting error where the person receives two copies of chromosome 7 from the mother (maternally inherited). As a ‘syndrome’ a diagnosis is typically given for children upon confirmation of the presence of several ‘symptoms’ listed below. [2] Symptoms are Intrauterine Growth Restriction (IUGR) combined with some of the following:
  • Often small for gestational age (SGA) at birth (birth weight less than 2.8 kg)
  • Feeding problems: the baby is uninterested in feeding and takes only small amounts with difficulty

Hypoglycemia
Excessive sweating as a baby, especially at night, and a greyness or pallor of the skin. This may be a symptom of hypoglycemia
Triangular shaped face with a small jaw and a pointed chin that tends to lessen slightly with age. The mouth tends to curve down
A blue tinge to the whites of the eyes in younger children
Head circumference may be of normal size and disproportionate to a small body size
Wide and late-closing fontanelle
Clinodactyly
Body asymmetry: one side of the body grows more slowly than the other
Continued poor growth with no “catch up” into the normal centile lines on growth chart
Precocious puberty (occasionally)
Low muscle tone
Gastroesophageal reflux disease
A striking lack of subcutaneous fat
Late closing of the opening between the heart hemispheres
Constipation (sometimes severe)

Exams and Tests
The condition is usually diagnosed by early childhood. The doctor will perform a physical exam. Signs include:

  • Small, pointed chin
  • Thin, wide mouth
  • Triangle-shaped face with broad forehead

There are no specific laboratory tests to diagnose Russell-Silver syndrome. However, the following tests may be done:

  • Blood sugar
  • Bone age testing
  • Genetic testing
  • Growth hormone
  • Skeletal survey (to rule out other conditions that may mimic Russell-Silver syndrome)

The RSS phenotype includes a number of physical and developmental characteristics. One of these, asymmetry, is unique to Russell-Silver Syndrome, while others, like low birth weight and length, are shared by RSS and SGA children in general.

Characteristics Considered to Distinguish Russell-Silver syndrome Children From Other Small for Gestational Age Children:

  • body asymmetry -LARGE side is “normal” side
  • inadequate catch-up growth in first 2 years
  • persistently low weight-for-heightlack of interest in eating
  • lack of muscle mass and/or poor muscle tone
  • broad forehead
  • large head size for body size
  • hypoplastic (underdeveloped) chin & midface
  • downturned corners of mouth & thin upper lip
  • high-arched palate
  • small, crowded teeth
  • low-set, posteriorly rotated &/or prominent ears
  • unusually, high-pitched voice in early years
  • clinodactly (inward curving) of the 5th finger
  • syndactyly (webbing) of the 2nd and 3rd toes
  • hypospadius – abnormal opening of the penis
  • cryptorchidism – undescended testicles
  • café-au-lait (coffee-with-milk) birth marks
  • dimples in the posterior shoulders and hips
  • narrow, flat feet ·
  • scoliosis – curved spine, associated with spinal asymmetry and accentuated by a short leg

Characteristics of Small for Gestational Age Patients in General That Are Seen More Often in Russell-Silver syndrome Patients:

  • fasting hypoglycemia & mild metabolic acidosi
  • generalized intestinal movement abnormalities:
  • esophageal reflux resulting in movement of food up from stomach into food tube
  • delayed stomach emptying resulting in vomiting or frequent spitting up
  • slow movement of the small intestine &/or large intestine (constipation)
  • blue sclera (bluish tinge in white of eye)
  • late closure of the anterior fontanel (soft spot)
  • frequent ear infections or chronic fluid in ears
  • congenital absence of the second premolars
  • delay of gross and fine motor development
  • delay of speech and oral motor development
  • kidney abnormalities
  • delayed bone age early, later fast advancement
  • early pubic hair and underarm odor (adrenarche)
  • early puberty or rarely true precocious puberty
  • classical or neurosecretory growth hormone deficiency
  • ADD and specific learning disabilities

What Should I Do If I Think My Small for Gestational Age Child Has Russell-Silver Syndrome?

Have your child’s diagnosis confirmed by a doctor who is familiar with RSS-SGA patients.
Make sure your child is measured carefully & frequently. KEEP YOUR OWN RECORDS.
Find an endocrinologist who knows how to treat SGA children’s growth failure and discuss the options.
Find a pediatrician who is willing to learn from experts about RSS-SGA children, and will coordinate care and opinions with consulting specialists.
Get adequate calories into your child. Insufficient nutrition & low blood sugar damage the developing brain and compound the growth failure.
Take necessary measures to prevent hypoglycemia in young RSS children. Pay special attention to the night when everyone is asleep, anytime your child is ill or not eating normally, and when your child is unusually active or stressed.
Know clues that hypoglycemia is occurring

waking to feed at night past early infancy
excessive sweatin
extreme crankiness improved by feeding
difficulty waking up in the morning
ketones in the urine
Prevent hypoglycemia by:

feeding frequently during the day & night
keeping snacks with you at all time
feeding through gastrostomy tube
adding glucose polymer in infant’s, & cornstarch in child’s, bed- & night-time feeding
keeping glucose gel with you at all times
making prior arrangements with your doctor and local ER to start IV glucose if feeding is impossible
having urine ketone sticks at home
Treat your child his age not his size. Arrange safe, age-appropriate activities; buy age-appropriate clothes; and expect age-appropriate behavior and responsibility.

Watch your child’s psychosocial and motor development. All states have developmental evaluation & intervention services for children less than 3. These programs are based on the child’s needs not parental income. For children over 3 years, the school district becomes responsible for providing these services. Take advantage of this; intervention can make a world of difference for your child!

Seek appropriate consultation for recurrent ear infections, hypospadius, undescended testicles, leg length discrepancies, etc. But remember:

Only emergency surgery should be done until the child is gaining weight well.
A young SGA child should NEVER be fasted or kept NPO for more than 4 hours for ANY reason without glucose-running IV.
For surgery, IV glucose should be given during the procedure and continued in the recovery room.

It is not your fault! You could have done nothing to prevent it! Russell-Silver syndrome occurs through complicated genetic mechanisms and could never be caused by what you as parents did or did not do.

Cognitive Abilities

  • An infant with Russell-Silver syndrome is generally born with normal intelligence. Learning disabilities and Attention Deficit Disorder (ADD) appear to be increased in incidence in RSS. Autism and similar disorders like pervasive developmental disorder (PDD) may also be increased. It is unclear whether these problems just appear to be increased in RSS, are innate to RSS, or are acquired through early malnutrition and hypoglycemia, both of which are preventable.
  • Coping with the time-consuming special attention and services necessary to care for an RSS-SGA child can be overwhelming, especially if you try to face it alone. Good physicians often have no experience with routine needs of RSS-SGA children. Day-to-day challenges such as feeding, formulas, fitting clothes, school issues and peer pressures can be less stressful if you are in contact with other families who “have been there and done that.” Making connections between families with similar issues and facilitating sharing of information and experience is a major goal of the MAGIC Foundation’s Russell-Silver Syndrome Division.

Possible Complications

  • Self esteem and emotional problems related to appearance
  • Chewing or speaking difficulty if jaw is very small
  • Learning disabilities

Treatments

  • For RSS and non-RSS/SGA patients, the prospect for a normal life with a normal adult height is closer than ever before. By understanding the importance of aggressively feeding these children, no matter what it takes, we are able to avoid the malnutrition and low blood sugar that in the past has so negatively affected their growth and development. With the recent U. S. Food and Drug Administration’s approval of growth hormone for the treatment of the growth failure associated with being born small-for-gestational age, these young children can start the first grade with a normal height if treated early. By taking medications to postpone puberty, called LHRH analogues [LHRHa], the older children can recover growth potential lost in-utero, in infancy and in early childhood. By continuing growth hormone until growth is finished, the teenagers have a better growth spurt during puberty. The figures comparing the average growth of a large sample of untreated, European RSS children to examples of currently treated Russell-Silver Syndrome children are available from MAGIC.

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

  • Making sure the person gets enough calories
  • Physical therapy
  • Special education
  • 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.

The caloric intake of children with RSS must be carefully controlled in order to provide the best opportunity for growth, if the child is unable to tolerate oral feeding then enteral feeding may be used, such as the percutaneous endoscopic gastrostomy.

In children with limb-length differences or scoliosis, physiotherapy can alleviate the problems caused by these symptoms. In more severe cases, surgery to lengthen limbs may be required. To prevent aggravating posture difficulties children with leg length differences may require a raise in their shoe.

Growth hormone therapy is often prescribed as part of the treatment of RSS. The hormones are given by injection typically daily from the age of 2 years old through teenage years. It may be effective even when the patient does not have a Growth Hormone deficiency. Growth Hormone therapy has been shown to increase the rate of growth in patients and consequently prompts ‘catch up’ growth. This may enable the child to begin their education at a normal height, improving their self-esteem and interaction with other children. The effect of growth hormone therapy on mature and final height is as yet uncertain. There are some theories suggesting that the therapy also assists with muscular development and managing hypoglycemia.

References

  • Bartholdi D, Krajewska-Walasek M, Ounap K, et al. (March 2009). “Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes”. J. Med. Genet. 46 (3): 192–7.
  • Rakover Y, Dietsch S, Ambler GR, Chock C, Thomsett M, Cowell CT (1996). “Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW)”. Eur. J. Pediatr. 155 (10): 851–7.
  • Russell A (1954). “A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples)”. Proc. R. Soc. Med. 47 (12): 1040–4.
  • Silver HK, Kiyasu W, George J, Deamer WC (1953). “Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins”. Pediatrics 12 (4): 368–76.

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