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 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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.