Cornelia de Lange syndrome
Other Names for this Disease
- Brachmann de Lange syndrome
- Brachmann-de Lange syndrome
- De Lange syndrome
- Typus degenerativus amstelodamensis
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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 in the SMC1A gene and occur in people with no history of the condition in their family.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. Cornelia de Lange syndrome is caused by mutations in at least three genes, including
Last updated: 1/15/2015
- Cornelia de Lange syndrome. Genetics Home Reference (GHR). July 2012; http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome. Accessed 1/15/2015.
- Genetics Home Reference (GHR) contains information on Cornelia de Lange syndrome. This website is maintained by the National Library of Medicine.
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- 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.