Russell Silver Syndrome

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Russell Silver Syndrome (RSS) is a rare genetic congenital growth disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead, body asymmetry, and significant feeding difficulty. Most individuals with RSS are of normal intelligence but suffer delays in speech and/or inspiration. Read More

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Russell Silver Syndrome

What is Russell Silver Syndrome?

Russell Silver Syndrome (RSS) is a rare genetic congenital growth disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead, body asymmetry, and significant feeding difficulty. Most individuals with RSS are of normal intelligence but suffer delays in speech and/or inspiration. 

Russell Silver Syndrome

What are the synonyms for RSS?

Russell Silver syndrome is also known as:

  • Silver-Russell syndrome (SRS).
  • Russell-Silver dwarfism.
  • Silver-Russell dwarfism.
  • Silver syndrome.
  • Russell syndrome.

Causes

Russell Silver Syndrome (RSS) is a genetic disorder usually caused by the abnormal regulation of specific genes that control growth. Two genetic conditions have been found to result in about 60% of RSS cases:

  • Matured disomy of chromosome 7 (mat-UPD7).

This occurs when a child inherits both copies of chromosome 7 from the mother instead of one from each of the parents.

  • Abnormalities at an impaired region on chromosome 11p15.

This happens for some genes. It is common to find imprinted genes grouped together. A cluster of imprinted genes is found on chromosome 11p15.5. The cluster is divided into two functional areas called “imprinting centers regions” (ICR1 & ICR2). These genes play a vital role in the regulation of the growth of a fetus. Approximately 1% of RSS patients have been shown to have gene mutations in the ICF2 pathway (IGF2, HMGA2, and PLAG1) or CDKN1C. Single gene mutations (variants) are most often seen in rare familial cases of RSS, as shown in Russell Silver syndrome genetics results. This was seen in 40% of children diagnosed with RSS. Further research work is needed to identify the underlying cause in this group of children.

What are the risk factors of Russell silver syndrome?

The only risk factor of Russell-Silver syndrome proves to be genetics. It is rarely passed on from parents to children and most often occurs in children whose grandparents or great-grandparents, even the 5th generation, had the disorder.

Symptoms

The symptoms of this condition may vary. Some people may have many features, while others may have few. Most of these signs are present at birth, while others appear early in childhood. RSS behavior and indications may include:

  • A small jaw.
  • A narrow chin.
  • Prominent forehead.
  • Intrauterine growth retardation (poor fetal growth).
  • Low birth weight (less than 2.8kg).
  • Large head about body size (relative microcephaly).
  • Poor growth after birth, resulting in short stature.
  • Autism spectrum.
  • Feeding difficulties, such as:
  1. Poor appetite.
  2. Fussiness.
  3. Slow feeding.
  4. Problems linked with oral-motor dysfunction.

Feeding did not significantly affect the intake of kilocalories of protein, fat, or carbohydrates.

  • Small triangular-shaped face.
  • Down-turned corners of the mouth.
  • Curbing of the pinky finger (clinodactyly).
  • Delayed bone age.
  • Arms and legs with different lengths (body asymmetry).
  • Scoliosis (abnormal curvature of the spine).
  • Changes in the skin pigment.
  • Motor, speech, and/or cognitive delay.
  • Gastroesophageal reflux disease (GERD) or other digestive problems.
  • Blue sclera (whites of the eye turned bluish-gray).
  • Cachexia (wasting syndrome).
  • Excessive sweating (especially at night).
  • Head circumference may be of normal size and disproportionate to small body size.
  • Lack of subcutaneous fat.
  • Constipation (sometimes severe).
  • Precocious puberty (early development of puberty).
  • Probability of having monozygotic (identical) twins.

How is Russell silver syndrome diagnosed?

Diagnosing RSS may be difficult. The syndrome may be mistakenly diagnosed for:

  • Fanconi anemia syndrome (a genetic defect in DNA repair known to cause cancer).
  • Bloom syndrome (a genetic disorder causing short stature and increased likelihood of cancer).
  • Nijmegen breakage syndrome (a genetic disorder that causes a small head, short stature, etc.)

In order to confirm the syndrome, the doctor may recommend consulting some medical specialists, including:

  • Geneticists.
  • Gastroenterologists.
  • Endocrinologists.
  • Nutritionists.

More genetic testing information can be received from the Genetic Testing Registry of Russell Silver Syndrome. 

How is Russell silver syndrome treated?

RUSSELL SILVER SYNDROME TREATMENT
Picture Courtesy: diseasemaps

Russell Silver syndrome is usually present at birth. Its treatment focuses on treating its symptoms to enable the child to develop normally. 

For growth and development:

  • A nutrition schedule with specific snacks and mealtimes.
  • Growth hormone injections.
  • Luteinizing hormone release treatments.

To correct and accommodate limb asymmetry:

  • Shoe lift.
  • Corrective surgery.

Treatment for mental and social development:

  • Physical therapy.
  • Speech therapy.
  • Psychosocial therapy
  • Occupational and speech therapy
  • Genetic counseling
  • Language therapy.
  • Programs on early development intervention.

What is the outlook (prognosis) of Russell silver syndrome?

RSS hinders developmental growth and mental and societal development. It is a deterrent to emotional and mental health. Children with Russell Silver syndrome should receive regular monitoring and testing to ensure developmental restoration. Most RSS patients will see their symptoms improve as they enter adulthood. Such symptoms improving with age include short stature, low weight, and speech difficulties. RSS is a genetic disorder, rarely passed to direct offspring. Persons having RSS should consider visiting a genetic counselor who will explain the odds that their child could develop the disorder. Parents of RSS patients should be armed with sufficient information to ensure the successful management of this disorder.

What are the complications of Russell silver syndrome?

The gastrointestinal complication is the main complication of RSS. Significantly, gastroesophageal reflux (GERD), which includes esophagitis and food aversion, has passed a major risk. Other RSS complications include:

  • Intrauterine growth retardation.
  • Body asymmetry.
  • Distinctive facial appearance.
  • Developmental delays.
  • Psychosocial problems.

Severe complications may have devastating prognoses and life-threatening effects. These severe complications may include:

  • Cardiac defects (congenital heart disease, pericarditis, etc.).
  • Kidney problems, including horseshoe kidney.
  • Hypoglycemia (low blood sugar levels).
  • Underlying malignant conditions (such as Wilm’s tumor).

FAQ

What is Russell Silver syndrome life expectancy?

Although adolescents and adults with Russell Silver syndrome will be shorter than average, RSS does not significantly impact life expectancy. RSS is now thought to be a genetic disorder caused by abnormalities in either chromosome 7 or 11.

Is Russell-Silver syndrome a disability?

RSS is a rare genetic, developmental disorder featuring prenatal and postnatal growth delays and other physical abnormalities. It is not a disability for which a person can receive financial aid, but it could result in a learning disability.

What is most likely the shape of the face of a child with Russell-Silver syndrome?

Many RSS children have small, triangular faces with distinctive facial features like a prominent forehead, narrow chin, small jaw, and down-turned mouth corners.

Is Russell-Silver syndrome a form of dwarfism?

RSS is a primordial form of dwarfism, affecting 1 in every 100,000 babies per year, according to NIH.

What are the features of an RSS patient?

A Russell Silver syndrome patient usually has distinctive facial features and asymmetric limbs. Babies affected usually have difficulty in feeding and growing. Adults and adolescents affected usually have a shorter-than-average height.

Whom does Russell silver syndrome affect?

RSS is a genetic condition that can affect any child. The disorder affects both males and females equally.

How common is Russell silver syndrome?

RSS is a rare genetic condition that affects about 1 in 15,000 to 1,00,000 births. The characteristics of this condition often mimic those of other growth disorders and congenital conditions [1]. 

What is the life expectancy of people with Russell silver syndrome?

Babies born with this condition generally have difficulty in feeding and growth. However, adolescents and adults born with this condition will be shorter than average men. However, patients diagnosed with this syndrome do not significantly impact life expectancy [2]. 

Is there a cure for Russell silver syndrome?

Since RSS is a genetic disorder, there is no way it can be prevented completely, nor is there a cure for this syndrome [3]. 

References

  1. https://my.clevelandclinic.org/health/diseases/22184-russell-silver-syndrome#symptoms-and-causes 
  2. https://www.verywellhealth.com/russell-silver-syndrome-2861004#:~:text=Babies%20with%20this%20condition%20typically,not%20significantly%20impact%20life%20expectancy.
  3. https://my.clevelandclinic.org/health/diseases/22184-russell-silver-syndrome#:~:text=Russell%2DSilver%20syndrome%20is%20the,provider%20about%20preconception%20genetic%20testing.