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We collect questions often asked by people around syndrome de Cornelia de Lange (SCDL), 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 syndrome de Cornelia de Lange (SCDL), 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 syndrome de Cornelia de Lange (SCDL), are committed to doing with heart and soul.

Le syndrome de Cornélie de Lange (SCDL) est une maladie génétique rare dont beaucoup de personnes n'ont jamais entendu parler. Les enfants atteints du CdLS "se ressemblent", il y a beaucoup de similitudes dans l'apparence et le comportement. En 1933, le pédiatre néerlandais Cornelia de Lange a décrit deux enfants présentant un certain nombre de caractéristiques étonnamment similaires. Le syndrome a donc été baptisé en son honneur.

Le SCDL peut affecter de nombreuses parties du corps et les personnes atteintes peuvent présenter des caractéristiques physiques, cognitives et comportementales. Les caractéristiques cognitives sont des processus basés sur le cerveau, comme la mémoire et la pensée. Les caractéristiques comportementales font référence à certains comportements que les personnes atteintes du SCDL sont plus susceptibles d'avoir. Ces caractéristiques peuvent varier considérablement d'une personne à l'autre et vont de petites différences par rapport à d'autres personnes à des différences très perceptibles. Notre panel international d'experts a élaboré un guide complet sur le diagnostic et la gestion du SCDL, dont le lien est ici!

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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 syndrome de Cornelia de Lange (SCDL) there is a lot of unknown's,
    • care-intensive: Because of the rare aspect of syndrome de Cornelia de Lange (SCDL) 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 syndrome de Cornelia de Lange (SCDL) rather than the diagnostics.

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