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Clinical

Syndromes: Cornelia de Lange syndrome

First in a series about conditions with common symptoms that constitute syndromes
Cornelia de Lange

Cornelia de Lange syndrome can be characterised by several physical traits, mental health conditions and additional developmental needs. People with Cornelia de Lange syndrome may present with the following physical attributes:

  • Distinctive facial features such as highly arched eyebrows.
  • A single eyebrow (synophrys).
  • Long eyelashes.
  • A short nose with nostrils that tilt forward, small teeth with wide spacing and microcephaly.
  • Reduced growth.
  • Increased body hair.
  • Abnormalities that particularly affect the upper limbs (Oliver et al 2009).

Cornelia de Lange syndrome is associated with severe to mild learning disabilities, however diagnoses have been made for people who may not meet the diagnostic criteria for learning disabilities.

Cornelia de Lange syndrome is a rare congenital condition and it is thought that it affects about 1 in 50,000 live births (Hall et al

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