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We collect questions often asked by people around Cornelia-de-Lange-Syndrom, 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 Cornelia-de-Lange-Syndrom, 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 Cornelia-de-Lange-Syndrom, are committed to doing with heart and soul.

Das Cornelia-de-Lange-Syndrom (CdLS) ist eine seltene genetische Erkrankung, von der viele Menschen noch nie etwas gehört haben. Kinder mit CdLS "sehen" gleich aus, es besteht eine große Ähnlichkeit in Aussehen und Verhalten. Im Jahr 1933 beschrieb die niederländische Kinderärztin Cornelia de Lange zwei Kinder mit einer Reihe auffallend ähnlicher Merkmale. Das Syndrom wurde deshalb nach ihr benannt.

CdLS kann viele Teile des Körpers betreffen, und Personen mit CdLS können körperliche, kognitive und Verhaltensmerkmale aufweisen. Kognitive Merkmale sind hirnbasierte Prozesse wie Gedächtnis und Denken. Verhaltensmerkmale beziehen sich auf bestimmte Verhaltensweisen, die Personen mit CdLS mit größerer Wahrscheinlichkeit haben. Diese Merkmale können bei den betroffenen Personen sehr unterschiedlich sein und von kleinen Unterschieden im Vergleich zu anderen Personen bis hin zu sehr auffälligen Unterschieden reichen. Unser internationales Expertengremium hat einen umfassenden Leitfaden zur Diagnose und Behandlung von CdLS zusammengestellt, der hier verlinkt ist

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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
  2. ^
    • 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 Cornelia-de-Lange-Syndrom there is a lot of unknown's,
    • care-intensive: Because of the rare aspect of Cornelia-de-Lange-Syndrom 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 Cornelia-de-Lange-Syndrom rather than the diagnostics.

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