What is Turner Syndrome?

• A form of dwarfism
• Affects approximately 1 in every 2,000 
• Only affects girls
• Occurs as a result of missing chromosomes 
• Adult height of approximately 4 foot 7 inches

Diagnosis of Turner Syndrome

• Before birth by: 
  • Ultrasound (observation of various characteristics) 
  • Amniocentesis (if suspected)
• After birth by:
  • Genetic testing
  • Observation of common physical characteristics (although observation of these may not be apparent until puberty) 

What are common characteristics of Turner Syndrome?

1. Shorter than average 
2. Underdeveloped Ovaries 
3. Thick neck tissue
4. low hairline
5. drooping eyelids
6. differently shaped ears
7. edema (extra fluid) in the hands and feet
8. Heart condition
9. Kidney abnormalities
10. abnormal bone development 

*Please be aware, not all of the characteristics may be present*

Other information about Turner Syndrome

• Would need regular health checks but can lead a healthy lifestyle
• Life expectancy may be slightly reduced
• On most occasions intelligence is average, some may have learning difficulties (not extreme)

Genetics of Turner Syndrome

• In most cases Turner syndrome is not inherited. 
• The chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parents.
• An error in cell division (nondisjunction) can result in reproductive cells with an abnormal number of chromosomes.
• Although rare, Turner syndrome caused by partial deletion can be passed from one generation to the next. 

Additional reading about Turner Syndrome

• Genetics Home Reference - Turner Syndrome
• National Organisation for Rare Disorders - Turner Syndrome
• WebMD
• NHS
• Kids Health
• Understanding Dwarfism

Other organisations supporting Turner Syndrome

• Turner Syndrome Support Society (UK)
• Child Growth Foundation

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