Russell Silver Syndrome

June 18, 2020
Janelle Thomas MSN, RN
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It can be extremely exciting to see the growth of your child and their progress as they get older. Most families mark this development somewhere in their home — with pencil marks on a door frame showing the difference in height from one year to the next. It can be something to look forward to and a fun activity to see the difference a year can make. But, if your child suffers from Russell Silver syndrome, then their growth may not be so apparent in their height. What is this disorder, and how can it impact your child?

What is Russell Silver syndrome?

Russell Silver syndrome (RSS) is an extremely rare congenital condition characterized by stunted growth and limb or facial asymmetry. It is so rare — occurring in only 1 in 100,000 people globally — that some physicians may not be familiar enough to diagnose it immediately.

Russell Silver Syndrome Causes

RSS is a genetic disorder that affects certain genes that control your child’s growth. Most cases are not inherited by a parent and instead occur sporadically. In cases where the child developed the condition from a parent, it’s inherited in an autosomal dominant or autosomal recessive manner. This means that the congenital condition can occur from a dominant gene or a recessive one.

Russell Silver Syndrome Symptoms

Most symptoms of RSS are present at birth, with others developing during early childhood. Children with the condition will have normal intelligence but could experience delays in reaching developmental milestones. Signs can range from rare to minor and may include:

  • Small stature at birth
  • After-birth growth below average
  • Normal head circumference
  • Limb, body, or facial asymmetry
  • Short arm span, but normal upper-to-lower arm segment ratio
  • Fifth-finger clinodactyly
  • Triangular-shaped face
  • Prominent forehead
  • Changes in skin pigment
  • Hypoglycemia
  • Feeding difficulties in infants
  • Gastrointestinal disorders
  • Motor, speech, and/or cognitive delays
  • Cardiac defects
  • Underlying malignant conditions — such as Wilms’ tumor

Russell Silver Syndrome Diagnosis

While diagnosing RSS is extremely difficult, it can be done quickly with the right specialist. Diagnosing RSS becomes more difficult as the child gets older, so you should talk to your pediatrician early and request that they work with other specialists to help rule out other options.

Russell Silver Syndrome Treatment

Once diagnosed, you should include a geneticist, gastroenterologist, nutritionist, and endocrinologist when discussing treatments. The first few years are incredibly important in child development, so it is vital that you work with your child and their pediatrician early to treat symptoms and help your child develop as normally as possible.

Your treatment plan should include dietary considerations, physical limitations, and medication. Treatment options may include:

  • Creating a nutrition schedule — including consistent snack and meal times
  • Growth hormone injections
  • Luteinizing hormone-releasing treatments — once your child is ready for puberty
  • Shoe lifts to accommodate limb asymmetry
  • Surgery to correct limb asymmetry
  • Speech therapy
  • Physical therapy
  • Language therapy
  • Early development intervention programs

Contact Care Options for Kids for Home Health Care

It can be hard to balance your time between work, home, and caring for a child. That’s why our team of skilled professionals at Care Options for Kids are here to help.

Our home care services offer support in the comfort of your home. We hire loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.

If you or a loved one are considering pediatric home health care services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.