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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
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]
References
- Cornelia de Lange syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome. Accessed December 22, 2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Cornelia de Lange syndrome have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Cornelia de Lange syndrome. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cornelia de Lange syndrome. Click on the link to go to OMIM and review these resources.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.