Silver-Russell syndrome (SRS)

Silver-Russell syndrome (SRS) or Russel-Silver syndrome (RSS) is a rare growth disorder that occurs in about 1 in 30,000 to 100,000 newborns. It is a genetic disorder caused by a change in the DNA (genetic material). 

During pregnancy it can usually already be seen that the growth of a child is delayed. Children born with SRS have a triangular face and are too small and light.  

SRS is a genetic disorder. It is usually caused by an accidental genetic mutation (in chromosome 11 or 7), but in about 40% of SRS patients, no genetic cause can be found. 

SRS may be suspected based on the signs and symptoms listed below. Genetic testing can confirm the diagnosis in about 60% of children. 

Signs and symptoms can differ greatly from one child to another: 

• Too light and often too small at birth for the gestational age 
• Men do not grow taller than about 1.52 m and women do not grow taller than about 1.40 m 
• Triangular face with a convex forehead and a small, pointed chin, thin lips and curved mouth 
• Excessive sweating 
• Pigmentation spots 
• High voice  
• Chronic low blood sugar, especially at a very young age 
• Nutritional problems 
• Crooked pinkie fingers 

There is no cure for SRS. SRS treatment is focused on reducing the symptoms/characteristics of the syndrome. Sometimes children are treated with growth hormone to stimulate body growth. Blood sugar levels should be monitored carefully to prevent permanent damage. It is therefore important for them to eat regularly or to administer artificial nutrition if necessary. In addition, physical therapy, occupational therapy or speech therapy can be given.