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2. Physical Features

The distinct facial features and skeletal abnormalities of Cornelia de Lange syndrome often allow for a diagnosis based on physical appearance alone. This is particularly true in more severe cases. Physical signs of Cornelia de Lange syndrome include

  • Abnormally small head
  • Short stature
  • Skeletal deformities, particularly in the hands, arms, and fingers
  • Long eyelashes
  • Arched eyebrows
  • Low set ears
  • Excessive body hair
Cornelia de Lange physical signs HRAUN / Getty Images
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