1. Textbook RSS Characteristics
Identifying Russell-Silver syndrome (RSS) can be challenging because there is great variety in how the condition presents. Your child may display numerous symptoms, or he may have only a few. If your child is a textbook case, he may have a small, triangle-shaped face, normal head size, underdeveloped chin or jaw, wide forehead, low birth weight, poor growth and pinky finger that is locked in the bent position (clinodactyly). Additional symptoms may include undergrowth of one side of the body (hemihypotrophy), short arms, short fingers and toes, abnormal ear positioning, an unusually high voice, curvature of the spine, webbing between the second and third toe, undescended testicles and cafe au lait birthmarks. Children with Russell-Silver syndrome will typically also have numerous symptoms of small gestational age (SGA), but these symptoms may be more pronounced than in SGA children without an RSS diagnosis. If your child has RSS, he will typically have normal intelligence.
2. Small for Gestational Age (SGA) Characteristics
Your infant is considered small for gestational age (SGA) if his weight is below the tenth percentile for his gestational age. This can be caused by a genetic disorder like Russell-Silver syndrome or a number of other factors. Typical SGA symptoms include fasting hypoglycemia (low blood sugar), late closure of the soft spot, frequent ear problems, delayed speech and motor skills, delayed bone age, early puberty and learning disabilities. Additionally, they often have kidney problems and gastrointestinal issues. Because the diagnostic criteria for RSS are somewhat subjective, some children with RSS may be better classified as SGA and vice versa. If your child has SGA and you identify symptoms of RSS, consult with a specialist for a proper diagnosis.
3. Tests Rule out Similar Disorders
There are no laboratory tests that give doctors or parents definite answers about whether a child has Russell-Silver syndrome, but there are tests, including chromosomal analysis and karyotyping, that can be used to help diagnose your child. These tests are also used to rule out other genetic disorders because the genetics of RSS are very complex. Besides chromosomal disorders, fetal alcohol syndrome is the most likely differential diagnosis.
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