Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by prenatal and postnatal growth restriction, characteristic craniofacial features, developmental delay or intellectual disability, limb abnormalities, feeding difficulties, and congenital malformations. Clinical severity is highly variable, and the phenotype overlaps with other disorders affecting cohesin function and chromatin regulation.

This panel includes genes associated with Cornelia de Lange syndrome as well as related cohesinopathies and chromatin-regulation disorders with overlapping developmental phenotypes.

This panel is recommended for patients with clinical features suggestive of Cornelia de Lange syndrome or a related developmental disorder, particularly when characteristic facial features, growth restriction, developmental delay, limb abnormalities, or multiple congenital anomalies are present.