Russell Silver Syndrome

What is Russell Silver Syndrome?

Russell Silver Syndrome is a growth retarding condition before and after birth of a child. The Russell Silver Syndrome affected child has a low body weight after birth with normal head growth.  Feeding difficulty after birth causes poor appetites, hypoglycemia, thin physical stature. The average height of male with Russell Silver Syndrome is about 4 feet, 11 inches (151 centimeters) and female height is 4 feet, 7 inches (140 centimeters). (1,2)

Russell Silver Syndrome pictures


Russell Silver Syndrome was separately detected by two medical experts – H.K. Silver in 1953 and A. Russell in 1954. Therefore, the syndrome is described as Russell Silver Syndrome. (2,3)


Russell Silver Syndrome is the growth retarding disorder. The two major identified factors are responsible for the development of the  Russell Silver Syndrome:

1. Maternal disomy of chromosome 7 (where the child inherits both number of 7 chromosomes from his mother instead of one from his mother and one from his father) and

2. Anomalies at an imprinted region on chromosome 11p15.

Maternal disomy of chromosome 7 can be explained as the affected child inherits a pair of chromosome 7 from his/her mother; but in normal child inherits pair of 7 chromosomes one from his mother and one from his father.

The above mentioned factors are involved almost 60% of cases and remaining 40% of Russell Silver Syndrome cases are not having proper identified genetic defects. The including additional possible involvement of chromosomal abnormalities in Russell Silver Syndrome are 1, 7, 14, 15, 17, and 18.

Russell Silver Syndrome rarely has a hereditary background due to an autosomal dominant or recessive trait. The outcome of inheriting Russell Silver Syndrome could be a carrier of the genetic abnormality, which increase the chance of Russell Silver Syndrome development in future generation of that particular family. (1,3)


All the symptoms of Russell Silver Syndrome may not be noticeable at the time of birth. Some of the symptoms associated with Russell Silver Syndrome are slowly progressive at the early childhood. The affected individuals usually have normal mental development with insufficient physical development.

The most prominent symptoms associated with Russell Silver Syndrome are:

  1. Low body weight at the time of birth due to insufficient intrauterine growth
  2. Dwarf physical development
  3. After birth, physical development, including height and weight is unsatisfactory in comparing to other normal child.
  4. Asymmetrical physical structure, including limb, body, or facial growth with normal head circumference

Insignificant symptomatic approaches are:

  1. Arm length is short, but the normal anatomical ratio is maintained between upper-to-lower-arm-segment.
  2. A curvature towards forth fingers is noticeable with smaller fingers, medically the condition is termed as fifth-finger clinodactyl
  3. Face is triangular-shaped
  4. Forehead high up
  5. Other included symptoms may appear in Russell Silver Syndrome are:
  6. Altered pigmentation can cause changes in the skin coloration.
  7. Blood sugar level is below normal (hypoglycemia)
  8. Infants unable to feed sufficiently or feeding difficulties
  9. Gastrointestinal disorders, including acute diarrhea, acid reflux disease, vomiting, constipation etc.
  10. Delayed development of the speech, motor and cognitive activities
  11. Malnutrition

Rare symptoms associated with Russell Silver Syndrome are:

  1. Heart related problems like congenital heart disease, pericarditis, etc.
  2. Malignant conditions like Wilms’ tumor may associated with Russell Silver Syndrome (4)


It is estimated that the maximum prevalence of Russell Silver Syndrome represents as 1 case in 3,000 population, whereas at the minimum prevalence it represents as 1 case in 100,000 population. Above 400 cases already estimated reported incidence of Russell Silver Syndrome. The incidence rate is similar for both males and females. (2)


In early childhood, the symptomatic assessment is easy in comparison to older children. A team of experts usually works together and assess all the necessary test reports and physical examination with signs and symptoms analysis to detect Russell Silver Syndrome. The team of medical experts includes geneticist, endocrinologist, gastroenterologist and nutritionist.

Clinical evolution, a detailed patient history and growth retardation analysis before and after birth with head circumference is included diagnostic feature of the Russell Silver Syndrome. The diagnosis of Russell Silver Syndrome, as the symptoms are not specific and similar health related symptoms are also associated with other clinical conditions, such as Nijumegen breakage syndrome, Bloom syndrome and Fanconi anemia syndrome .

Prenatal ultrasonography may diagnose the growth retardation of the fetus.

Genetic testing, specifically chromosomes 7 and 11 can provide the abnormal genetic structure of the affected individual. (3, 4)

Treatment or Management

Russell Silver Syndrome is a congenital disorder. After birth, child development is very challenging at the initial years. The aim of the treatment is to lessen the symptoms associated with Russell Silver Syndrome for assisting the normal development of the affected child. The treatment plan of Russell Silver Syndrome includes:

  1. Appropriate diet schedule with short interval between each food intake of high protein snack and meals.
  2. Growth hormonal therapy
  3. For sexual development luteinizing hormonal therapy is also recommended. This treatment approach has also triggered puberty (monthly ovulation) in females.

Anatomical limb development correction includes:

  • Shoe lifts (raising of the affected foot require some inserting material at the heel position of the shoe.
  • Surgical correction

The overall mental and social development requires

  1. Physical therapy
  2. Speech therapy
  3. Language therapy
  4. Overall developmental intervention program (4)


russell silver syndrome image

russell silver syndrome genetics russell silver syndrome genetics 2

russell silver syndrome pics

russell silver syndrome pics 2 russell silver syndrome photos


  1. Russell-Silver syndrome; Genetic Home Reference; Retrieve from:
  2. Sunil Sinha (2015); Silver-Russell Syndrome; Retrieve from:
  3. Russell Silver Syndrome; National organization for Rare Disorder; Retrieve from:
  4. Lydia Krause (2016); Russell Silver Syndrome; Retrieve from:

3 thoughts on “Russell Silver Syndrome

    • 17/02/2019 at 2:32 AM

      At age in the 40s is their more possibility for kidney disease?
      What is expected age for Russel Silver Syndrome?
      Nancy Welch

      Thank you for any adult expected information.

  • 09/05/2019 at 8:16 PM

    My Grandson has Russell-Silvers Syndrome (was diagnosed)
    his doctors do not know much about this my daughter has researched the Syndrome. She can not find anything on the growth curve for Russell-Silvers Syndrome. Also what volume of food should he be getting. His doctor wants him eating more formula with higher mixture content but he is hard on his stomach. We are increasing the content he gets and introducing food
    last month he only put on 1 ounce of weight but grew about 1 inch.


Leave a Reply

Your email address will not be published. Required fields are marked *