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General Information
Name
Cornelia de Lange syndrome
FlyBase ID
FBhh0000604
Disease Ontology Term
Parent Disease
OMIM
Overview

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]

Disease Summary Information
Parent Disease Summary: Cornelia de Lange syndrome
OMIM report
Symptoms and phenotype

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]

Genetics

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]

There are both autosomal and X-linked forms of CDLS; all exhibit dominant inheritance. [from OMIM:PS122470; 2017.09.08]

Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
BDLS
Brachmann-de Lange Syndrome
CDL
CDLS
CdLS
de Lange syndrome
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Selected mammalian transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (4)