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Other Names :  

Ullrich-Turner syndrome, Gonadal dysgenesis, 45X

What is Turner's Syndrome ?  

A condition in which a female is partly or completely missing an X-chromosome. Signs and symptoms vary among those affected.

Cause(s) :  
  • Chromosomal abnormality
Symptoms :  

Physical features:
  • Short stature
  • Short webbed neck
  • Swelling of hands and feet
  • Small fingernails
  • Waist-to-hip ration is high
  • Broad chest and widely spaced nipples
  • Low hairline and low set ears
  • Increased weight, obesity
  • Small lower jaw
Reproduction:
  • Infertility
  • Gonads are underdeveloped, later become fibrosed
  • Amenorrhea
Heart:
  • Shield shaped thorax of heart
  • Aortic valve stenosis
  • Coarctation of aorta
  • Partial anomalous venous drainage
  • Aortic dilation, dissection and rupture
  • Bicuspid aortic valve
Cognitive:
  • Attention Deficit Hyperactivity disorder
  • Problems with maths, social skill
  • Difficulty with spatial relations
Other organs:
  • Visual impairments
  • Drooping eyelids
  • Ear infections, hearing loss
  • Horseshoe kidney
Diagnosis and Tests :  
  • Prenatal amniocentesis
  • Chorionic villus sampling
  • Ultrasound findings of heart, kidney
Category :  Congenital Conditions

Specialist to consult :  Paediatrics

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