Cornelia de lange syndrome: A review

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Cornelia de Lange syndrome (CdLS), also known as Bushy syndrome, Amsterdam dwarfism and Brachmann- de Lange syndrome is a genetic multi system disorder, usually caused by spontaneous mutation. Although present from birth, it may not always be immediately diagnosed. The estimated incidence is about 1:10,000-30,000 births. Both sexes are affected. Mortality is high early in life and neurosensory, craniofacial, musculoskeletal, cardiac and gastrointestinal abnormalities are all apparent. There is no known cure and treatment is supportive, requiring a team support system.

Original languageEnglish
Title of host publicationAdvances in Genetics Research
PublisherNova Science Publishers, Inc.
Number of pages20
ISBN (Electronic)9781536132656
ISBN (Print)9781536132649
StatePublished - 1 Jan 2018


  • Cornelia de lange syndrome
  • Dwarfism
  • Genetic mutation
  • Rare disorders
  • Respiratory failure


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