What is Russell-Silver syndrome?
Russell-Silver syndrome (or Silver-Russell syndrome) is a rare birth defect which causes decreased growth of the fetus (intrauterine growth restriction – IUGR) and infant/child (postnatal growth deficiency), leading to short stature. In addition, distinct facial features (triangular-shaped face) are present. There is also asymmetric growth with one side of the body being larger than the other, feeding difficulties and the fifth finger is a little bit bent. The syndrome occurs in both girls and boys, and it may be caused by a genetic abnormality, however, there are cases that occur with no known cause.
Most children with Russell-Silver syndrome have hemihypertrophy, or larger asymmetric growth on one side of the body compared to the other. This can cause a limb-length inequality. Wilms tumor, a childhood cancer affecting the kidney, is associated with hemihypertrophy and screening for this is recommended.
Musculoskeletal findings of Russell-Silver syndrome include: limb length discrepancy, short stature, curvature of fingers—usually the small finger (clinodactyly), toes that grow together (syndactyly), spine curvature (scoliosis), congenital dislocation of the patella and hip dysplasia.
How is Russell-Silver syndrome diagnosed?
In most cases, the diagnosis can be made based on the physical exam and X-rays; however, a geneticist can do genetic testing to confirm the diagnosis.
How is Russell-Silver syndrome treated?
Conservative treatment is an option for many cases. With growth, curvature of the fingers may improve. Syndactyly of toes can be treated nonsurgically in some cases. A simple shoe lift may be an option for those with limb length inequality.
In cases of functional deficits and pain, surgical treatment may be a viable option. Surgical procedures requiring redirection of the hip (pelvic and/or femoral osteotomies) can successfully treat hip dysplasia. In the case of limb length discrepancies, external fixation or internal magnetically controlled lengthening rods (PRECICE) may be used to equalize limb lengths. Some children with this syndrome tend to be short, slowing the growth of the longer side (epiphysiodesis) is usually not recommended.
What are the risks of surgical treatment?
Surgical intervention has the potential for improved alignment, walking, mobility and function in patients with Russell-Silver syndrome, but it also carries some risks. Complications from surgery can occur such as blood loss, infection at the operative site, neurovascular injury, loss of motion in the joints, difficulty healing, blood clots, problems with hardware used for fixation, recurrence of contractures or deformity, and need for other procedures to help with healing.
Why come to the International Center for Limb Lengthening for treatment of Russell-Silver syndrome?
Limb Lengthening and deformity correction are complex processes. Your doctor at the International Center for Limb Lengthening will take the time to make sure you understand all of your options and then will customize your treatment to meet your specific needs. Our patients benefit from our team-centered approach with world-renowned surgeons and specialized physician assistants, nurses and physical therapists. We help patients with Russell-Silver syndrome achieve their best possible result.