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Genetic Disorders
 
 

Turner's Syndrome

 
 
 
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On this page:Manifestations

Overview

Turner syndrome occurs secondary to monosomy X, where all or part of an X chromosome is missing, or due to duplication of the long arm of one X chromosome.

Manifestations

  • Clinical Features

  • Female
  • Short stature
  • Puffy hands and feet (congenital lymphoedema)
  • Added skin folds on the back of the neck
  • Complications of Turner Syndrome

  • Cardiovascular

  • Bicuspid aortic valve
  • Aortic coarctation
  • Aortic dissection
  • Hyperlipidaemia
  • Reproductive

  • Ovarian failure
  • Poor breast development
  • Other

  • Osteoporosis
  • Horseshoe kidney
  • Autoimmune disorders - thyroiditis, coeliac disease
  • Ocular pathology - myopia (nearsightedness), strabismus
  • Ear pathology - sensorineural hearing loss, recurrent otitis media
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