Latest News

  • Facial Recognition Program (Research Opportunity)

    We have been approached by Rachel Winograd on behalf of a study being conducted by Dr. Lynne Bird, Geneticist at Rady Children’s Hospital, San Diego and the University of California, San Diego. Clinical researchers at the University who are interested in Angelman syndrome and conditions that are similar to Angelman syndrome, are partnering with facial recognition software developers (FDNA) to attempt to create a program that will help doctors discriminate conditiona that are often confused with Angelman syndrome. Kleefstra syndrome is one such syndrome that can be mistaken for Angelman syndrome. Patients with Kleefstra syndrome and their siblings are needed for this research.

    Please note that by participating in this study, participants will be giving identifiable pictures to FDNA in order to assist in their software development. FDNA may benefit financially from improvements made as a result of the photographs you provide, but the Principal Investigator (Dr. Bird) does not have a financial interest in FDNA.  Please see this link for more details.

The summary from the most recent Kleefstra syndrome conference held in the UK, August 2015 can now be downloaded here.

Please accept our apologies for the length of time it has taken to put this together, we hope you will enjoy reading about the conference and KS developments.

We are so excited to share with you the first of six KS videos which were filmed during the KS conference weekend these can be found by following the link on page 9 of the summary.  The videos were put together by the wonderful team from Birmingham University, we will update further once the KS information including the remaining videos go live on their website in the coming weeks.

Thank you once again for your continued support.

  • Karlijn Vermeulen - new paper published

Karlijn Vermeulen (One of the guests of the 2015 conference) has had a new paper published called 'From a single gene defect towards a cross species neurocognitive phenotype: The EHMT1 Disruption Example (Kleefstra syndrome)'  The paper has been made freely available via the Austin Publishing group and can be downloaded in PDF format here.  Karlijn continues her work at Radboud UMC and hopes to have more papers published in 2016.

  • Kleefstra syndrome UK Conference 14th - 16th August 2015

During the 2015 Kleefstra conference in the UK, we were pleased to welcome Andy & Lindsay Klump and Hira & Neha Verma as they launched their new project
Genespark is a new international non-profit foundation which is focusing on the development and advancement of drug treatments for Intellectual disabilities with an initial focus on Kleefstra syndrome.  To learn more about Genespark, please visit their at

  • Kleefstra syndrome UK Conference 14th - 16th August 2015

After the sucess of the last UK meet back in 2013 we are excited to announce that we are holding a Conference weeked in August 2015.  Please click here for more information including how to book.

  • Kleefstra syndrome UK meet 2013 

We are very excited to announce the forthcoming UK meet once again during summer of 2013.  As in previous years the event will be based at the Novotel Hotel, Coventry who have offered a fantastic package for those wishing to attend.  Dr. Kleefstra is expected to attend too so it's a fabulous opportunity to meet her in person, listen to her presentations and ask questions. The event is scheduled for the weekend of 10th/11th August with the discounted hotel rates available from the Novotel for up to 3 nights.  For further information on how to book please click here.

  • Kleefstra syndrome course by Frambu in Norway - 12th - 16th November 2012

Frambu, one of the Norwegian resource centres for rare disorders has organised the first course for families with a child with Kleefstra syndrome in Norway.  Courses at Frambu give the affected families a meeting place and provide them with information on various topics relating to rare disorders.  Dr. Tjitske and her colleagues Prof. Hans Van Bokhoeven and Dr. Karlijn Vermeulen are scheduled to give lectures during the course on 15th November.  If you require further information on this event please contact us and we will put you in touch with the organiser.

  • Kleefstra syndrome USA meet update - 27th July 2012

A member of our website is organising a meet up for fellow families whom have a child with Kleefstra syndrome.  The meet is to take place on 12th - 14th October 2012 in San Antonio, Texas (USA) 2012.  Full details can now be found on our Events page.

  • Website Update - 18th May 2012

Following a review we have given the website a slight make over, bringing about a fresher look but retaining the classic layout we're all familiar with. Improvements have been made behind the scenes too, which will ensure remains active and online to support those affected by the condition when they need it.

If you have any problems or have any suggestions regarding the website we'd love to hear from you, please contact us here.

  • Kleefstra syndrome USA meet, Texas, October 2012

A member of our website is organising a meet up for fellow families whom have a child with Kleefstra syndrome which is to take place in San Antonio, Texas during October 2012.  Further information can be found on the Events page.

  • Kleefstra syndrome appears on the FDNA website - 27th April

The FDNA develops medical solutions that identify and evaluate symptoms of rare diseases and genetic disorders, by analyzing regular facial photos of infants and children.  Kleefstra syndrome was added to their website on 19th March 2012 and contains a good summary of Kleefstra syndrome.  You can find the information here.

  • Kleefstra syndrome appears on the RARE List - 20th April 2012

Kleefstra syndrome has been added to the RARE List (Rare Disease Advocacy Research Education).  To find out more about RARE and see the list, visit them at

  • Website Update - 2nd November 2010 has had a few updates over the last week which are worth a look. First of all we have added a "Who is Dr. Kleefstra?" which is a short biography written by Dr. Kleefstra herself for our Website. We are extremely grateful that Dr. Kleefstra was able to take time out of her already busy schedule to write it up.

In addition, the Research section of this site has had a sizable update, therefore the menu has been renamed more appropriately to "Research & Downloads". In there you will now find the Kleefstra syndrome leaflet and the weekend study report (which was produced by Unique) to download. Also you can find a link to the article on GeneReviews submitted by Dr. Kleefstra.

  • Jeans for Genes report on Kleefstra syndrome & Conference  - 2nd June 2010

Genes for Jeans have published an article on their news pages covering the recent renaming of 9q34.3 deletion to Kleefstra syndrome and the family conference held a few weeks ago. Check out the full article here

  • Website Update in progress - 2nd May 2010

Updates to the website will be taking place over the next week or so to reflect the re-naming of 9q34.3 deletion to Kleefstra syndrome. We also have changed the domain name to to compliment the change, although will also continue to point to this website.  Nothing has changed in terms of functionality and I don't expect any downtime during the tranition. I also hope to have a full report along with copies of the presentations from the Unique conference shortly, these will be uploaded to the members area. Any problems or questions, please click here to contact me.

  • Unique Conference - November 2009

We have now had confirmation on the date and location of this event. It will be held between 16th & 18th April 2010 at the Novotel Hotel in Coventry, UK.

There are a number of professionals keen to attend, including a behavioural psychologist, a speech and language therapist both of whom have a lot of experience with youngsters with chromosome abnormality's.

We also have Professor Peter Hammond who is very keen to be there. Peter works with 3D imaging techniques to help speed up the diagnosis of rare genetic conditions.

If you wish to attend please get in touch with Unique by visiting their website


  • Website Achievements to celebrate!! - August 2009

We have successfully applied for HONcode accreditation and in the next few days I'll be adding our unique HONcode Certification badge to the homepage. HONcode (Health On the Net Foundation) was created for improving the quality of information intended to both patients and medical professionals for facilitating quick access to the most relevant and up-to-date medical discoveries. Conditions of us gaining and keeping the certification mean that our site must now and in the future abide by the HONcode code of conduct.

Another major achievement - We are now Number 1........... In Google anyway!!  If you have a look at our Mission Statement you will see that one of the goals for the website was "To allow parents of newly diagnosed children to find this website using a simple Internet search."

This goal is partly complete as we now sit at the top of a Google search for the term "9q34.3"  Hopefully we can remain at the top to reach out to as many people as possible.

  • Unique and Jeans for Genes Study Day - July 2009

The first day of it's kind dedicated to 9q34.3 deletion, Unique and Jeans for Genes are planning the event for families with a family member diagnosed with a 9q34.3 deletion. The day is currently scheduled for 16-18th April 2010.

Unique carried out a majority convenience vote and it has now been decided that the location will be in the Midlands of the UK. If you wish to know more or want to attend please visit Unique's website and sign up to be a member. Please note you do not need to be from the UK to attend.

Tjitske Kleefstra from Nijmegan's University of Medicine, The Netherlands is scheduled to attend the day.

  • New Facebook group created - June 2009

A new Facebook group has been created by Isabel Jacinto Fonseca who is a parent of a child with the 9q34.3 deletion. Families have already been shaing information and pictures. Please take a few minutes to check it out. You can access the page by visiting this link.

Additional information