A rare genetic disorder that causes low birth weight and multiple severe physical abnormalities is called Russell-Silver syndrome (RSS). It occurs due to a mutation (change) in the genes that control growth. Usually, this condition is diagnosed through genetic tests and clinical examination. In general, the prognosis for this disorder is positive.
However, this condition affects children (boys and girls) equally. Furthermore, this disorder occurs rarely and affects 1 in every 15,000 to 100,000 births. In some cases, the symptoms caused by RSS can be very similar to other growth disorders and congenital conditions. That’s why sometimes, RSS can go undiagnosed.
When was Russell-Silver Syndrome Discovered?
The features of RSS were discovered in 1953 by Dr. Hendry Silver. However, additional features of this disorder were discovered by Dr. Alexander Russell in 1954. While researchers thought Silver and Russell had found different disorders, later physicians identified that they were seeing different features of the same disorder. Moreover, in the U.S., the condition is called Russell-Silver syndrome, but in Europe, it is known as Silver-Russell syndrome.
Symptoms
Usually, children with RSS experience different symptoms because this condition affects multiple parts of the body. Check below the most common symptoms of RSS:
Growth
- Low birth weight
- Short stature
- Failure to thrive (difficulty gaining weight)
- Intrauterine growth restriction (IUGR)
Facial and Skull Features
- Large head size
- Fontanelle (delayed closure of the soft spot)
- Triangular-shaped face
- Narrow chin
- Small jaw (also known as micrognathia)
- Protruding forehead
- Down-turned corners of the mouth
Dental Problems
- Cleft palate
- Dental crowding
- Microdontia (abnormally small teeth)
- Hypodontia (missing teeth)
Other Physical Characteristics
These include:
- Scoliosis
- Hemihypertrophy (legs and arms have different lengths)
- Clinodactyly
Immediately contact your healthcare professional if any of the symptoms listed above occur.
How Does Russell-Silver Syndrome Affect Adults?
Commonly, adults with RSS have a short stature. The average height for men is 4 feet, 11 inches, and 4 feet, 7 inches for women. Furthermore, some research has shown that adults with RSS are at increased risk for some complications with aging. Check below some of them:
- Low bone density and muscle mass
- Metabolic syndrome
- Hypogonadism (low sex drive)
- Testicular cancer
- Myoclonus dystonia (a condition that causes involuntary and quick movements)
Causes
Healthcare providers have found some genetic changes that cause RSS. These genes control growth. According to some studies, a genetic change in chromosomes 7 or 11 is present in about 60% of people with RSS. In the rest 40% of people with this disorder, no genetic cause has been found. However, the research is ongoing.
What Are The Potential Complications of Russell-Silver Syndrome?
People with RSS can also experience some complications, especially if it is left untreated. Check below some of them:
- Feeding problems, including esophagitis, chronic acid reflux (GERD), poor appetite, and others
- Neurodevelopmental issues, such as delayed motor skills, speech delay, learning difficulties, and others
- Other complications – These include hypoglycemia (low blood sugar), kidney problems, difficulty walking or balancing, growth delay, urinary or reproductive system problems, and others
This document does not contain a complete list of RSS complications. However, you can consult with your doctor about ways to reduce the risk or prevent previous complications.
How to Prevent Russell-Silver Syndrome?
Unfortunately, this condition cannot be prevented because healthcare professionals do not fully understand why it happens. However, you can perform some genetic tests before pregnancy to check for the abnormal gene that causes this disorder. It is essential to understand the risks of having a child with RSS.
Diagnosis
Usually, it is challenging to diagnose RSS because the characteristics and severity of the symptoms vary widely. In some cases, the symptoms are very similar to other growth disorders and congenital conditions. However, the diagnosis of this genetic disorder often begins with a physical examination to check for irregularities linked to the disease. Generally, genetic testing can confirm up to 60% of cases.
Treatment
Commonly, doctors prescribe different treatments for people with RSS because they depend on several factors. These include the severity of the condition, existing health problems, age, and preferences. In most cases, management of RSS requires multiple healthcare providers. For example:
- Orthopedist
- Pediatrician
- Developmental pediatrician
- Endocrinologist
- Gastroenterologist
- Neurologist
- Dietician
- Speech and dental therapists
- Genetic counselor
- Psychologist
Check below the most common treatments recommended by doctors for people with RSS:
Growth
One of the most important treatments for children with RSS is nutritional support for at least the first 2 years of life. You should make sure your child gets enough calories. Sometimes, a feeding tube may be necessary. For example:
- Nasogastric tube – This is a small tube that runs from the baby’s nose to their stomach.
- Gastrostomy tube – In such cases, the tube is inserted directly into the baby’s stomach through a small incision (cut) in their abdomen (belly).
Doctors may also recommend growth hormone (GH) therapy to improve the child’s body structure, motor development, and appetite, reduce the risk of low blood sugar, and increase growth.
Feeding
Most children with RSS also have acid reflux. Check below some options that can relieve this problem:
- Small and frequent meals
- Keep the baby upright while eating
- Medicines, including H2 blockers (to reduce acid production) and proton pump inhibitors (stronger acid blockers that help heal damaged esophagus tissue)
- Fundoplication – During this procedure, surgeons use techniques to strengthen the valve (sphincter) between the esophagus and stomach
Hypoglycemia
Usually, doctors recommend frequent feeding, dietary supplements, and complex carbohydrates.
Dental
Your child may need multiple dental procedures (including braces or oral surgery) to correct problems caused by RSS.
In addition, physicians may also recommend other treatments to address complications caused by RSS. These include special braces or shoes to help with walking and balance, surgery to correct limb asymmetry, and others.
Additional Treatments
The following options are often recommended in addition to treatment to ease the symptoms and improve your child’s quality of life. Examples include:
- Psychosocial therapy – During this therapy, social workers (psychosocial therapists) provide mental health support. They can help with a child’s self-image, peer relationships, and social interactions.
- Genetic counseling – This healthcare provider can confirm the child’s diagnosis and offer counseling to you and your family.
- Physical therapy – It involves specific exercises to improve the strength of the child’s muscles.
- Occupational therapy – This treatment helps with fine motor skills, visual perception, and cognitive reasoning.
- Speech therapy – This treatment is often used to improve speech, language, and communication. It may also help with feeding and swallowing.
Frequently Asked Questions
What is the difference between Russell-Silver syndrome and Silver syndrome?
While both are rare genetic disorders and are caused by genetic mutations (changes), there are some differences between them. The Silver syndrome is caused by a mutation in the BSCL2 gene. It primarily affects muscles and may cause paralysis over time. However, the symptoms in people with Silver syndrome often begin in late childhood.
What is the life expectancy of someone with Russell-Silver syndrome?
Generally, this condition does not affect life expectancy, and most people with RSS can expect a normal life. Moreover, with early diagnosis and proper treatment, you can address complications caused by this genetic disorder and improve your quality of life. For more details, discuss it with your doctor.
Is Russell-Silver syndrome a form of dwarfism?
Yes, specifically one of the types of primordial dwarfism. It is a rare congenital disorder that causes slow growth, low birth weight, and multiple abnormalities, including body asymmetry, distinctive facial characteristics, and others. Ask your healthcare provider if you have additional questions.
