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?
- Shorter than average
- Underdeveloped Ovaries
- Thick neck tissue
- low hairline
- drooping eyelids
- differently shaped ears
- edema (extra fluid) in the hands and feet
- Heart condition
- Kidney abnormalities
- 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
- Kids Health
- Understanding Dwarfism
Other organisations supporting Turner Syndrome
*Little People UK are not responsible for external website*