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GTR Home > Conditions/Phenotypes > Cornelia de Lange syndrome 6

Cornelia de Lange syndrome 6

Summary

Cornelia de Lange syndrome (CDLS) is a genetically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (608667) (summary by Musio et al., 2006 and Hoppman-Chaney et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see CDLS1 (122470). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CAP, CDLS6, FSHRG4, HUNK1, HUNKI, MCAP, BRD4
    Summary: bromodomain containing 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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