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Cornelia de Lange syndrome


Other Names for this Disease
  • Brachmann de Lange syndrome
  • Brachmann-de Lange syndrome
  • CDLS
  • De Lange syndrome
  • Typus degenerativus amstelodamensis
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Overview

Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The severity of the condition and the associated signs and symptoms can vary widely, but may include distinctive facial characteristics, growth delays, intellectual disability and limb defects. Approximately 65% of people affected by CdLS have a change (mutation) in the NIPBL gene. Another 5% of cases are caused by mutations in one of four known genes: SMC1A, SMC3, HDAC8 and RAD21. In the remaining 30% of cases, the underlying genetic cause of the condition is unknown. CdLS can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A or HDAC8) manner. However, most cases result from new (de novo) mutations and occur in people with no family history of the condition.[1][2][3] Treatment is based on the signs and symptoms present in each person.[4]
Last updated: 7/27/2015

References

  1. Cornelia de Lange syndrome. Genetics Home Reference (GHR). July 2012; http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome. Accessed 1/15/2015.
  2. Feng L, Zhou D, Zhang Z, Liu Y, Yang Y. Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome. J Hum Genet. September 2014; 59(9):536-539.
  3. Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D. Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. March 2014; 537(2):279-284.
  4. Matthew A Deardorff, MD, PhD, Dinah M Clark, MS, and Ian D Krantz, MD. Cornelia de Lange Syndrome. GeneReviews. October 2011; http://www.ncbi.nlm.nih.gov/books/NBK1104/#cdls.Diagnosis.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Cornelia de Lange syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cornelia de Lange syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Brachmann de Lange syndrome
  • 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.