Russell-Silver syndrome - Medtick
Medtick

Russell-Silver syndrome

What is it?

Russell-Silver syndrome (RSS) is a rare growth disorder.

  • The wide spectrum of findings varies both in frequency and severity from one affected individual to another.
  • The majority of individuals with RSS are of normal intelligence, but motor skills (using hands and/or legs – walking difficulties) and/or speech delay is common.
  • It affects all genders and people of all ethnic backgrounds.

Cause

  • Genetically heterogeneous, meaning that different genetic abnormalities are known to cause the disorder.
  • Abnormalities involving chromosomes 7 or 11 have been found in up to 60% of RSS patients.
  • 40% of patients with a clinical diagnosis of RSS, the underlying cause is still not known
  • Most cases are not inherited but are thought to be due to spontaneous mutations.

Symptoms

(Symptoms can vary from individual to individual)

  • Abnormalities of the penis (opening of penis in wrong place), testicles (failure of testicles to fall to right position), or vagina (Blockage of the vagina)/Underdevelopment or malformation of genitals and urinary tract?
  • Slowed growth and/or shorter than average?
  • Head disproportionately large for the face?
  • Prominent forehead (looking from the side of the face)?
  • Triangular facial appearance?
  • Delayed closure of the ‘soft spot’ (anterior fontanelle) on the top of the head?
  • Bluish discoloration of the whites of the eyes (blue sclera) during infancy?
  • Small jaw and/or small mouth  and/or Small lower part of the face?
  • Down turned corners of the mouth?
  • Cleft lip and/or high arched palate (roof of the mouth)?
  • Crowded teeth, missing teeth and/or small teeth abnormalities?
  • Body asymmetry (one arm and/or leg longer than the other- one can have whole one side of body affected)?
  • Significant feeding difficulties and/or difficulty swallowing?
  • Speech delay?
  • Heart (cardiac) defects/atrial septal defect (‘hole in the heart’):
    • Short of breath and/or breathing difficulties (whether after exercise or not) and/or wheezing?
    • Regular and reoccurring chest infections?
    • Heart palpitations and/or irregular heartbeats?
  • Abnormalities of the kidneys/Pain in pelvis area and/or lower back and/or intense pain in the back or side (or moving pain from back to side) or in groin area?
  • Bone and joint movement problems and/or difficulty using arms and/or body and/or legs and/or lack of stamina and/or walking difficulties and/or crawling difficulties and/or rolling over difficulties?
  • Low birthweight?
  • Low muscle tone and poor muscle development and/or Loss of muscle and/or muscle are shrinking?
  • Webbed fingers or toes that are fused together (syndactyly)-be on both sides and may involve both the hands and the feet?
  • Excessive sweating?
  • Hypoglycaemia?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, phone for an ambulance if have or develop:

This condition can lead to:

This condition may show similar symptoms to:

These conditions are very difficult to diagnose, a specialist opinion is required.

OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.

Detailed Information

Please copy and paste any key words from the title: Russell-Silver syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

© Medtick - 2025. All Rights Reserved.