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

A síndrome de Cornelia de Lange (CdLS) é uma doença genética rara da qual muitas pessoas nunca ouviram falar. As crianças com CdLS 'parecem' o mesmo, há muitas semelhanças na aparência e comportamento. Em 1933, a pediatra holandesa Cornelia de Lange descreveu duas crianças com uma série de características impressionantemente semelhantes. A síndrome recebeu, portanto, o seu nome.

A CdLS pode afectar muitas partes do corpo e os indivíduos com CdLS podem apresentar características físicas, cognitivas e comportamentais. As características cognitivas são processos baseados no cérebro, como a memória e o pensamento. As características comportamentais referem-se a certos comportamentos que os indivíduos com CdLS têm mais probabilidades de ter. Estas características podem variar muito entre os indivíduos afectados e variam desde pequenas diferenças em comparação com outras pessoas até diferenças muito perceptíveis. O nosso painel internacional de peritos elaborou um guia completo para o diagnóstico e gestão do CdLS, ligado aqui!

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

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