by Angie Pollock

Created on: January 19, 2009

Russell-Silver syndrome (RSS) is a genetic disorder found in newborns that have an abnormal body asymmetry. Although the characteristics can vary between children, many infants and children that are diagnosed with this syndrome will appear to have a large side to the body and a smaller side. The larger side will be the average growing side with the smaller side being considered "abnormal".

Named for Dr. Silver and Dr. Russell, Russell-Silver syndrome was first described during the early 1950's and is known as Silver-Russell Syndrome (SRS) in Europe. Both of these doctors in separate findings described the disorder in infants with similar characteristics. The patients were short in stature, ears that were low-set on the head, triangular shaped faces and pinky fingers that curved inward. These children were grouped as small-for-gestational age or SGA.

Because there are no medical tests that can be performed to give a definitive answer if a child has RSS or SGA, doctors use the characteristics of the child to base their diagnosis. The most common characteristic is the body asymmetry (large side and small side). The arms and legs may be of different lengths. The smaller side of the body may not grow to normal size for the first two years of life.

The facial features of children with Russell-Silver syndrome may include a broad forehead or the head may appear too large compared to the overall body size. The corners of the mouth may be turned downward and the lips will be thin, mainly the upper lip. The chin and mid area of the face may appear to have not developed, a condition known as hypoplastic. The ears may appear to be low-set on the head and the mouth can have an abnormal palate with the teeth becoming crowded within the mouth.

Children born with this syndrome will be underweight with many refusing to eat even as they age. Malnutrition is always a risk in children with this syndrome. The voice will be high-pitched as they are young which they usually outgrow. The pinky finger will curve inward towards the ring finger and the second and third toes may be webbed together (syndactyly). Some children with RSS may have distinct birth marks known as cafe-au-lait (coffee-with-milk) marks. The penis can have a malformed opening along with cryptorchidism (testicles that have not descended).

Other concerns for children with Russell-Silver syndrome include poor muscles mass and scoliosis. Children with Russell-Silver syndrome typically have normal intelligence but may encounter a disability that hinders their learning such as Autism and ADD (Attention Deficit Disorder).

Russell-Silver syndrome is considered a rare disorder with the cause of the disorder being unknown in most cases. Parents with children who have been diagnosed with Russell-Silver syndrome should work closely with their doctors to provide the most recent care available for children with this syndrome.

References:

http://www.rarediseases.org/search/rdbdetail_abstrac t.html?disname=Russell%20Silver%20Syndrome%20(RSS

http://www.healthline.com/channel/russell-silver-syn drome.html

http://children.webmd.com/russell-silver-syndrome-rs s

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