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We collect questions often asked by people around sindrome di Cornelia de Lange, so you can search if your question is already asked. Each new question that is asked within our community is answered by a forum of experts with different expertises. We add links to helpful information, rewrite them to be understandable and share them 1. In this way we want to inform families, make them feel empowered and give them just that little bit of extra support.

Because if there is something typical for families with a care-intensive2 child like sindrome di Cornelia de Lange, is that you will have a lot of questions. And we all want that you can remain upright, by showing that no question is too complicated or not worth asking. And that is what we, as community around sindrome di Cornelia de Lange, are committed to doing with heart and soul.

La sindrome di Cornelia de Lange (CdLS) è una rara malattia genetica di cui molte persone non hanno mai sentito parlare. I bambini con la CdLS "hanno lo stesso aspetto", c'è molta somiglianza nell'aspetto e nel comportamento. Nel 1933, il pediatra olandese Cornelia de Lange ha descritto due bambini con una serie di caratteristiche sorprendentemente simili. La sindrome prese quindi il suo nome.

La CdLS può colpire molte parti del corpo e gli individui con CdLS possono mostrare caratteristiche fisiche, cognitive e comportamentali. Le caratteristiche cognitive sono processi basati sul cervello come la memoria e il pensiero. Le caratteristiche comportamentali si riferiscono a certi comportamenti che gli individui con CdLS hanno maggiori probabilità di avere. Queste caratteristiche possono variare notevolmente tra gli individui affetti e vanno da piccole differenze rispetto ad altre persone a differenze molto evidenti. Il nostro panel internazionale di esperti ha messo insieme una guida completa alla diagnosi e alla gestione della CdLS, collegata qui!

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    • when the person that asked the question has given permission to share this. 
    • Sometimes, on request of the person that asked the question, we will change the names to anonynymous information to shield the privacy of your community member
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    • care-intensive: a lot of questions (and answers to these) will be needed. A care-intensive person is somebody with a physical, mental or behavioural disability (or a combination thereof) and being seldom seen as sindrome di Cornelia de Lange there is a lot of unknown's,
    • care-intensive: Because of the rare aspect of sindrome di Cornelia de Lange family members are often, (forced to be), the advocate that needs to ask these questions for the better of their family member (or themselves!),
    • care-intensive: a word that we came up with, with which we focus on the experience of the care with sindrome di Cornelia de Lange rather than the diagnostics.

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