Silver-Russell syndrome

Silver-Russell syndrome (SRS) is a disorder occurring in approximately 1 in 50,000 to 1 in 100,000 births. It causes growth impairment. In the United States, the condition is more commonly referred to as Russell-Silver syndrome, while Silver-Russell syndrome is more commonly used in other countries.

Cause:
The exact cause is not known. Currently, researchers mostly support the theory that genetic factors play an important role in the development of this syndrome. The condition is named after Henry Silver and Alexander Russell.

Diagnosis:
Diagnosis is initially based on the clinical signs and symptoms listed below, but definitive confirmation is provided by laboratory genetic testing, which may demonstrate the presence of maternal uniparental disomy of chromosome 7. This means that an error occurred during genetic inheritance and the individual received two copies of chromosome 7 from the mother.

Treatment:
Treatment focuses on monitoring children’s caloric intake to prevent growth problems or reduce their progression. For children with limb deformities, physical rehabilitation (physiotherapy) may be beneficial and, in some cases, surgical treatment may be necessary. Growth hormone therapy is also frequently part of treatment.

• Triangular-shaped head and delicate facial features (small jaw, pointed chin)
• Low birth weight – growth retardation
• Birth weight below 2.8 kg (6.2 lb)
• Feeding difficulties
• Hypoglycemia (low blood sugar levels)
• Excessive sweating in children – especially at night
• Grayish or pale skin
• Delayed closure of the anterior fontanelle (soft spot)
• Asymmetrical body growth (one side of the body grows more slowly than the other)
• Sometimes precocious (early) puberty
• Low muscle tone (hypotonia)
• Gastroesophageal reflux disease (GERD)
• Marked deficiency of subcutaneous fat
• Constipation