What are the characteristic physical findings of Turner syndrome?

Updated: Mar 19, 2021
  • Author: Maala S Daniel, MBBS; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

These may include the following:

  • Dental: A high arched palate, sometimes with dental crowding or malocclusion
  • Nails: Hypoplastic or hyperconvex nails
  • Nevi: Excessive numbers of nevi, when compared to other family members
  • Webbed neck: A broad neck and a low or indistinct hairline
  • Cubitus valgus (increased carrying angle)
  • Madelung deformities of the wrist
  • Short fourth and fifth metacarpals and metatarsals
  • Shield chest: The chest appears to be broad with widely spaced nipples
  • Lymphedema
  • Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness
  • Ears: Serous otitis media is more common [4] ; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults
  • GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased
  • Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature
  • Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings
  • Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart [5] , coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood
  • Thyroid: Hypothyroidism develops in 10-30% of patients [6]  and is often associated with thyroid enlargement
  • Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy

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