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Russell-Silver Syndrome (RSS)
Monday, 21 July 2003
Tuesday, 12 July 2005
Silver-Russell Syndrome

What

Russell-Silver syndrome (RSS) is a rare genetic disorder that is characterized by short stature and body asymmetry. Stomach and intestine problems, learning disabilities, and developmental delay are also common.

Who

RSS occurs in all ethnicities and equally affects both males and females. The incidence of RSS is uncertain, but it has been estimated to range from 1 in 3000 to 1 in 100,000 births.

Signs and Symptoms

RSS is present from birth. Each child does not have all of the following symptoms:

  1. During pregnancy, the fetus is small. At birth, the newborn is small with a low birthweight.
  2. Infants may have low blood sugar levels (hypoglycemia).
  3. They have a poor appetite during the first few years of life and the child continues to be short.
  4. The average male adult height is 4 feet 11 inches.
  5. The average female adult height is 4 feet 6 inches.
  6. Their muscles may be weak.
  7. One side of the body is usually smaller than the other side.
  8. They may have abnormal fingers and toes.
  9. There can be birth marks on the skin (cafe-au-lait spots).
  10. Children have certain facial features, such as a small, triangular-shaped face because the forehead is broad and the chin is small and pointed.
  11. They may have a long, narrow head at birth, a thin upper lip, small teeth, bluish tint to the whites of the eyes, or ears that are low on the head.
  12. Children may have a high-pitched voice, which disappears as the child gets older.
  13. They can have developmental delays and learning disabilities.
  14. They can have heart, kidney, or genitalia problems. delayed bone age (slower bone growth than child’s age) muscle weakness asymmetry of the head, limbs, and/or trunk (limb asymmetry is the most common) the fifth finger in a permanent bent position fused or webbed toes colored spots on the skin, usually light tan (called Cafe-au-lait spots) late closure of the fontanel (soft spot on top of baby’s head) Facial features: * small, triangular face * long, narrow head at birth * broad forehead * small, pointed chin * thin upper lip * small teeth * bluish tint on the outer covering of the eyeballs * low-set ear.
  15. Other findings low birth weight -poor appetite during the first few years of life -hypoglycemia (low blood sugar levels) in early infancy -high pitched voice, which disappears as the child gets older -abnormal location of the urethral opening -developmental delays and learning disabilities

Possible Causes

Most cases of RSS are sporadic meaning that the child is the only family member affected with the disorder. RSS can be inherited in an autosomal dominant or autosomal recessive manner. Some cases of RSS are due to abnormalities of chromosome 7. Many cases of RSS have an unknown cause.

Diagnosis

The diagnosis of RSS is made by a geneticist based on the above signs and symptoms. An X-ray of the hand (bone age) may show that the child’s growth and development of the bones is slower than that of other children. A growth hormone level can be checked to see if the child needs additional growth hormone. Glucose levels should be monitored if there is any sign of low blood sugar (hypoglycemia). Intestine or stomach problems can be checked with gastrointestinal studies.

Treatment

There is no cure for RSS, but the child’s symptoms should be treated. Growth should be monitored carefully. If needed, they can be treated with growth hormone. Low blood sugars (hypoglycemia) should be treated with diet or medication. An appetite stimulant can help with the child’s eating, and a feeding tube can be used to give foods if the child does not eat enough by mouth. If one leg is longer than the other leg, they should be seen by an orthopedic surgeon to avoid causing curvatures of the spine (scoliosis). For example, they can wear a special lift in their shoes that helps the shorter leg to be the same height as the longer leg. Some children need to have corrective surgery. Physical and occupational therapy can help strengthen muscles and increase coordination. It is important for the child to start an early intervention program during infancy to help with any developmental delays. This should be continued when the child starts school. Special education classes, including speech therapy, can help to improve any learning disabilities.

Prognosis

A child with RSS typically lives a normal life, although the early years are often the most difficult because of developmental delays, learning disabilities, and poor eating habits. Over time, the appearance of the triangular-shaped face becomes less noticeable, muscles get stronger, appetite improves, and motor coordination develops. Speech becomes clearer and learning improves. Thus, children with RSS tend to grow up to become adults with few physical and developmental problems.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

The Magic Foundation
Information about RSS provided by a foundation dedicated to providing support to children and families affected by chronic disease, links to support networks, and ongoing clinical trials.

Human Growth Foundation   An organization for all disorders that affect growth including RSS.

RSS Kids
Several links to websites with information about RSS.

Google Search for Russell-Silver Syndrome (RSS)

References and Sources

GeneReviews: Russell-Silver Syndrome. www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=xYD951X9jbHyO&gry=&fcn=y&fw=NroJ&filename=/profiles/rss/index.html OMIM: Silver-Russell Syndrome. McKusick, V. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180860 Medline: www.nlm.nih.gov/medlineplus/ency/article/001209.htm