A message from Dr. Kleefstra:
Through this email I would kindly like to ask you to cooperate with the systematic collecting of data related to the Kleefstra Syndrome via registering with the GENIDA digital registry (http://genida.unistra.fr). By means of using the digital opportunities of today, a unique chance now comes up to collect a large number of international data on the Kleefstra Syndrome. Doing so, we wish to record the “natural history” of the KS. We are confident that such collected data would produce extremely useful information on the variety of a wide range of data on development, the prevention and frequency of symptoms and if there is a relation with the underlying reason (certain EHMT1 mutation or the position and size of the 9q34 deletion). This important data can be used to provide information on the syndrome and can only be collected if you cooperate in providing this information.
In that respect we, together with a few colleagues, developed and set up the GENIDA digital registry: https://genida.unistra.fr/
A huge advantage of this registry is the fact that questionnaires are available in different languages (Dutch, English, French), so the information can reach a broad audience internationally. The confidentiality of the provided data is guaranteed and for several (rare) syndromes there has been so much information provided that useful information can be collected from the registry already. Please assist us in completing the questionnaires and collecting as much information on KS as possible. Should certain elements of the questionnaires not work, please feel free to contact me or Tijn van Hooven (Dutch parent; email: firstname.lastname@example.org) and we will contact GENIDA. For further information or questions you can always contact Tijn van Hooven who is most happy to assist.
We know that the website genespark.org is also planning on opening a detailed registry for a long time now, however this has not yet been opened (due to various reasons). We work closely with the Genespark moderators and proposed to use the GENIDA registry instead in order to avoid that parents have to fill out similar questionnaires twice.
Please help us to collect and make record of the symptoms and course of KS by means of completing this registry.
Thank you very much in advance and kind regards,
Page updated: 15-05-2017