Cornelia de Lange syndrome. Cornelia de Lange syndrome ( CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.. Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that causes physical, cognitive and behavioral differences. The signs and symptoms of the condition vary widely and range from mild to severe. No two children with the disorder have exactly the same combination of traits, but there are many similarities in their appearance and behavior.
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CorneliadeLangeSyndrom Symptome, Ursachen, Diagnose und Behandlung
Cornelia de Lange syndrome (CdLS) (Online Mendelian Inheritance in Man (OMIM) entries 122470, 300590, 300882, 610759 and 614701) is a multisystem disorder with physical, cognitive and behavioural.. Clinical characteristics. Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal.
