1. Distinctive Characteristics of Russell-Silver Syndrome
The criteria for diagnosing Russell-Silver syndrome (RSS) can be complicated because there are so many symptoms associated with this disorder, and not all of them are present in every child. If your child has Russell-Silver syndrome, she may have a litany of symptoms. Other children may only have a handful of symptoms. An additional complicating factor is that there are other genetic birth defects and conditions that share some of the same symptoms as RSS. There are, however, some characteristics of RSS that are specific to this condition in comparison to other genetic birth defects and conditions. These characteristics include body asymmetry, a wide forehead, a large head size in relation to body size, a triangle-shaped face with a small chin, clinodactyly (bent and locked pinky finger) and cafe au lait birthmarks. Look for these symptoms in your child to determine whether RSS is a possibility.
2. Small for Gestational Age
The most easily spotted symptom of Russell-Silver syndrome is failure to grow. Children with RSS are born small for their gestational ages, a state called SGA for short. SGA can also be caused by other conditions besides RSS. Many of the symptoms that characterize RSS are shared by other SGA conditions, including vulnerability to hypoglycemia, intestinal problems, chronic ear problems, kidney abnormalities, learning disabilities and delayed bone age. These symptoms will not help you or doctors spot RSS because they are common to other SGA conditions. However, these symptoms are often more severe in children with RSS.
3. How RSS Affects Cognitive Ability
Some of the other conditions that cause SGA cause cognitive disabilities. This is not the case with RSS. If your child has Russell-Silver syndrome, he will generally be born with normal levels of intelligence. Learning difficulties do appear later on in life in some children with RSS, however. Additionally, your child may have a higher risk of developing autism or PDD (pervasive developmental disorder). Whether these conditions are primary symptoms of RSS or complications from hypoglycemia or malnutrition is as yet unknown.


