Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Russell-Silver Syndrome

Also known as Silver-Russell syndrome outside of the US or Silver-Russell dwarfism.

What is Russell-Silver Syndrome?

• Russell-Silver syndrome is a congenital disorder of growth, a form of dwarfism
• It is one of the five types of primordial dwarfism, meaning that is results in smaller body size beginning before birth
• Incidence rate ranges from 1 in 50,0000 to 1 in 100,000
• It is named after physicians Alexander Russell and Henry Silver

How Do You Get It?

• Russell-Silver syndrome appears to have a genetic basis, potentially connected to maternal genes found on chromosomes 7 and 11
• Around half of patients are believed to have hypomethylation affecting IGF2 and H19
  • This is believed to result in overexpression of H19 and lowered expression of IGF2
• Men and women are affected at equal rates
• Around 10% are associated with uniparental disomy on chromosome 7
• Russell-Silver syndrome is also associated with in vitro fertilization and assisted reproductive technologies

What Are the Symptoms?

• Symptoms of Russell-Silver syndrome include:
  • Fetal growth restriction
  • Small for gestational age from birth
  • Body asymmetry (one side grows more than the other)
  • Lack of subcutaneous fat
  • Difficulty eating
  • Gastroesophageal reflux
  • Excessive sweating as a baby
  • Blueish tinge to the whites of the eyes as a young child
  • Downward curved mouth
  • Triangular face with pointed chin and a small jaw; tends to reduce with age
  • Poor growth
  • Hypoglycemia
  • Constipation
  • Low muscle tone
• Without treatment, average adult height is 4’11” for men and 4’7″ for women

How Is It Treated?

• Treatment for Russell-Silver syndrome includes strict diet management
  • This provides the best chance for growth
  • Tube feeding may be used if the patient won’t tolerate oral feeding
• Physiotherapy may be used to treat scoliosis or limb length differences
  • In more severe cases, surgical treatment may be needed
• Growth hormone therapy is often utilized as part of treatment
  • Hormones are administered via daily injection from age two to the teenage years
  • This treatment can bring significant improvements to growth rates

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this disease from the LFA Foundation.