Russell-Silver syndrome

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Russell-Silver syndrome

Definition:

Russell-Silver syndrome is a disorder present at birth and diagnosed no later than early childhood. It is characterized by poor growth demonstrated by low birth weight and short stature (adult height usually less than 5 feet) and, frequently, asymmetry in the size of the two halves or other parts of the body.

The facial features may have a characteristic appearance:

triangular shape with broad forehead
small pointed chin
thin wide mouth

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Children with Russell-Silver syndrome are at risk for developmental and motor delays as well as learning disabilities.

Alternative Names:
Silver-Russell syndrome; Silver syndrome
Causes, incidence, and risk factors:

There is no one cause known for this rare disorder. Most cases are sporadic, that is, occur as an isolated finding in a family with no other affected family member.

The features associated with Russell-Silver syndrome have been described in association with many genetic abnormalities such as:

chromosome rearrangements
uniparental disomy (UPD) 7
autosomal dominant and recessive families (rarely reported)

More than 400 cases have been reported. Estimates of incidence range from as high as 1 in 3,000 to as low as 1 in 100,000. Males and females are equally affected.