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) :
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
Specialist to consult : Pediatrics
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