Diagnosis and Management of Cornelia De Lange Syndrome: First International Consensus Statement

Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0.

Abstract

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Consensus
  • De Lange Syndrome* / diagnosis
  • De Lange Syndrome* / genetics
  • De Lange Syndrome* / physiopathology
  • De Lange Syndrome* / therapy
  • Genetic Association Studies
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Mutation*