What is Cornelia de Lange Syndrome (CdLS)?

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder. Many people have never heard of it. It causes various physical, cognitive and medical challenges. Although no two children with this disorder are the same, there are many similarities in their appearance and behaviour.

In 1933, the Dutch paediatrician Cornelia de Lange described two children with strikingly similar characteristics. The syndrome was therefore named after her.

CdLS can manifest itself in different areas and individuals with CdLS can show specific physical, mental and behavioural characteristics. Mental characteristics are brain processes such as memory and thinking. Behavioural characteristics refer to certain behaviours that individuals with CdLS are more likely to display. These characteristics can vary greatly between individuals and range from small differences compared to other people to very noticeable differences. Our international panel of experts has compiled a comprehensive guide to the diagnosis and care


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order key Topic Title Delete
1 cdls01 Introduction
4 cdls04 CdLS Spectrum Clinical Criteria (scoring)
6 cdls06 Moleculair diagnostic criteria
17 cdls17 Diagnostic approaches
20 cdls20 What medical care may a child with CdLS need?
22 cdls22 Health difficulties in CdLS...
27 cdls27 Cognitive and behavioural characteristics in CdLS
35 cdls35 Age-related changes in cognition and behaviour
36 cdls36 Planning of Care
40 cdlsFamilyEmpowerment Family Empowerment
100 cdls42 Supplementary 1
101 cdlsglossary Glossary
600 cdlsRecommendations Full List of Recommendations
910 cdls0Table3 Table 3. Studies reporting level of intellectual disability in individuals with Cornelia de Lange syndrome.
920 cdls0Table4 Tabel 4. Onderzoeken die het niveau van ontwikkelingsachterstand bij individuen met Cornelia de Lange syndroom rapporteren
1000 cdlsTranslations Guideline translations for figures

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