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Diseases

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Cornelia de Lange syndrome


Other Names for this Disease

  • Brachmann de Lange syndrome
  • CDLS
  • De Lange syndrome
  • Typus degenerativus amstelodamensis
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Overview

What is Cornelia de Lange syndrome? 

What are the symptoms of Cornelia de Lange syndrome?

What is Cornelia de Lange syndrome? 

Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The features of this disorder, including distinctive facial characteristics, growth delays, intellectual disability and limb defects, vary widely among affected individuals and range from relatively mild to severe. This condition is caused by mutations in at least three genes, including NIPBL, SMC1A, and SMC3. In about 35 percent of cases, the cause of CdLS remains unknown. Cornelia de Lange syndrome may be inherited in an autosomal dominant or X-linked pattern of inheritance. Most cases result from new gene mutations and occur in people with no history of the condition in their family.[1]
Last updated: 12/22/2010

What are the symptoms of Cornelia de Lange syndrome?

Cornelia de Lange syndrome (CdLS) is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. The facial differences include arched eyebrows that often grow together in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. Many affected individuals also have behavior problems similar to autism. Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hirsutism), an unusually small head (microcephaly), hearing loss, short stature, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, eye problems, and skeletal abnormalities also have been reported in people with this condition.[1]
Last updated: 12/22/2010

References
  1. Cornelia de Lange syndrome. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome. Accessed 12/22/2010.


Other Names for this Disease
  • Brachmann de Lange syndrome
  • CDLS
  • De Lange syndrome
  • Typus degenerativus amstelodamensis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.