This report describes general characteristics of the group of diseases classified as Cornelia de Lange syndrome (CDLS). CDLS is a genetically heterogeneous disorder that can be inherited as an autosomal dominant condition or an X-linked condition. Many affected individuals have an abnormal gene as a result of a new gene mutation. CDLS subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these are listed in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Sep. 2017 by FlyBase; FBrf0222196]
Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010; pubmed:20583156). [from OMIM:122470; 2017.09.08]
CdLS can be inherited as an autosomal dominant condition or an X-linked condition. Most affected individuals have an abnormal gene as a result of a new gene mutation. [NORD, Cornelia de Lange syndrome; 2017.09.08]