Silver russell syndrome
Silver-Russell Syndrome (SRS), also known as Russell-Silver Syndrome (RSS), is a rare genetic disorder characterized by slow growth before and after birth, distinctive facial features, and asymmetry in the size of the two sides of the body.
Signs and Symptoms[edit | edit source]
The most common symptoms of Silver-Russell Syndrome include intrauterine growth retardation (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (known as bossing), body asymmetry, and fifth finger clinodactyly (inward curving).
Causes[edit | edit source]
Silver-Russell Syndrome is caused by genetic changes that are present at birth. It is believed to be primarily due to abnormal regulation of certain genes that control growth. Two specific genetic causes have been identified: a loss of genetic material on chromosome 7 or abnormal regulation of the imprinted gene on chromosome 11. However, in many cases, the cause of SRS remains unknown.
Diagnosis[edit | edit source]
Diagnosis of Silver-Russell Syndrome is based on clinical features. Genetic testing can sometimes confirm the diagnosis, but in many cases, the genetic cause of SRS is not identified.
Treatment[edit | edit source]
There is no cure for Silver-Russell Syndrome. Treatment is symptomatic and supportive, and may include growth hormone therapy to help increase height and physical therapy to help with motor skills.
Prognosis[edit | edit source]
The prognosis for individuals with Silver-Russell Syndrome varies. Some individuals may have normal intelligence and a near-normal adult height, while others may have learning disabilities and remain significantly shorter than average.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Silver russell syndrome is a rare disease.
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