Does anyone have any experience of Kleefstra Syndrome?

[hazeyjane]

Ds has just had the results back of his cgh array (which came back normal), but the geneticist says that they would like to do a test for Kleefstra syndrome, as he shows many characteristics of it.

I have of course had a frantic google, but just wondered if anyone had any experiences of this?

Thankyou.

anyone?

I'm sorry, I don't have any experience with this, but here's a quick bump for you and hope some one comes along soon who can help x

My DS has Kleefstra Syndrome. If you want to send me a message through Mumsnet I can send you my email address if you want to talk through anything.

If it's something general, then I'm happy to answer right here on the thread.

Thankyou

Can I ask when your ds was diagnosed? I am happy to message you if you don't want to give out details on a thread.

I'm not even sure what I want to know! It has just rather thrown me to have this letter from the geneticist, and it is not a syndrome I have ever heard of.

Ds has been tested for various things since he was 10 months old (he is now 2), and all have come back all clear, but most of the specific things tested for (Prader Willi for example), didn't seem that likely to us. But on googling Kleefstra Syndrome, I was struck by the similarity in the facial characteristics of some of the children and just how many things on the list of symptoms/markers he ticked. But I realise it is a very rare syndrome.

I realise I am just waffling on, if I think of anything more specific, maybe I could message you. Thankyou for listening

Ds was diagnosed when he was about 2.5... he's been 'in the medical system' since he was a few weeks old. In May this year (age 5 and a bit) he also received an Autism diagnosis.

He's a very happy little guy, and after an additional nursery year he'll be going into P1 as a split placement (mainstream & special needs setting).

I'll message you with my email address and you can just store it away in case you have questions later on... I'm also quite happy to send through some pics of ds from when he was younger if you'd like to look for facial similarities. DS also had his head 3D profile thingy done when they were mapping all the facial images to come up with the details for the syndrome!

Hi Hazey.
Not sure if you need support or info. If latter I can highly recommend
Unique's leaflet. I would have thought a cgh array would have detected it,
but then the geneticist knows better!

http://www.rarechromo.org/forum/LeafletConfirm.asp?ch=Chromosome%20%209&fn=Kleefstra%20Syndrome%20FTNW.pdf Kleefstra Syndrome

Second try:

www.rarechromo.org/forum/LeafletConfirm.asp?ch=Chromosome%20%209&fn=Kleefstra%20Syndrome%20FTNW.pdf Kleefstra Syndrome

www.rarechromo.org/forum/LeafletConfirm.asp?ch=Chromosome%20%209& fn=Kleefstra%20Syndrome%20FTNW.pdf

Sorry - I am giving up trying to get the link right.

It seems that Kleefstra syndrome refers to a deletion on the long arm of the
9th chromosome. If the deletion is large it would be detected by an cgh array.
If it is small, e.g a microdeletion involving a particular gene (EHMT1) you
might night another diagnostic, namely FISH.

I have no experience with Kleefstra syndrome, but the unique leaflet tries to
give you a range of outcomes as reported by their members. However,
development is not limited to what is typically reported for a certain syndrome.
(Here I can speak from my experience with having a child with a rare disorder).

Good luck!

Yes, ds was diagnosed using the FISH testing. I think they did a first test which didn't turn up anything, and then went straight for the FISH test. And glimmer is right, it is the EMHT1 gene which is missing off the 9th chromosome (along with other genes sometimes).

Here is the Unique leaflet.

Here is the website dedicated to Kleefstra information. They have a forum open to parents of children with the syndrome.

Thankyou for the links and info. Is the FISH test the same as a cgh array? The geneticist has also asked for a cheek swab to be done to look for mosaicisms. I really need to read 'Genetics for Dummies', it is all a bit overwhelming!

I am going to call the genetics nurse tomorrow to arrange the cheek swab and ask for some idea of how long the results of the test for Kleefstra syndrome will be.

I contacted the administrator of the Kleefstra forum, but it is, understandably, only open to parents of children with a confirmed diagnosis.

MommyUpNorth, thankyou for the offer of emailing some photos, I would love to see your little boy, I have some photos of ds on my profile. I will message you my email.

Hi I'm new here, my daughter aged 4 has kleefstra syndrome, was diagnosed at the age of 2. She's hard work but is my princess with the most beautiful smile, she can sort of walk, not very stable. Non verbal at the moment but we are working on it and learning makaton. I could go on, im just looking for other ks families out there really and if there is anyone in the UK as it would be nice to meet others like my big girl :) thanks

Kleefstra Syndrome

Think this is your link sorted

Hello paigeysmummy.

ds had a negative result from his kleefstra test, but then we had a call from the geneticist to say that Dr Kleefstra's team in Holland wanted him to be part of a study into novel candidate genes which could be involved in future diagnoses of Kleefstra. They had looked at his photos and clinical history and decided that it still looks likely that he has Kleefstra. So we are in a strange inbetween place, where he is being treated as having a 'possible diagnosis'.

I was unable to join the Kleefstra org. forum (link here, as he hasn't got a full blown diagnosis. But that would not be a problem in your case.

I am a member of a facebook group, if you are a fb user. They are mostly in America, but it is a worldwide group, and there are a number of Brits and Scots. They have been incredibly welcoming, and I have found it the single most helpful thing since ds was 'diagnosed', as he has so many of the same issues as the children there.(Although these boards are, in general the most supportive and wonderful place, I would be lost without the people on mnsn)

Ds is 2.5 and has low tone, severe speech delay, global developmental delay, feeding issues, frequent respiratory infections. He has very bad separation anxiety, and has just started to display some difficult behaviours. He is also gorgeous, very funny with an infectious Sid James style chuckle, who adores his big sisters (5 and 6).

If you want to pm me, or just chat on here that would be lovely. I would love to hear more about your dd, and maybe we could have a very small support thread of our own!

By the way there were also 2 mumsnetters who have children with Kleefstra, they very kindly emailed me, when I started this thread as I don't think they are very active on here any more.

Thanks for replying, yes I'm a member on the facebook page but it seems like they are all in other countries. Your boy does sound like Paige but with a year's of researching because we didn't have a diagnosis there are a lot of syndromes that sound very similar. Paiges doctor really believed she only had global developmental delay and seemed disappointed when the results came back as KS. I even asked him to test Paige for ks along with 4 other syndromes and on each he said no she didn't have them! But it was a weight off my shoulders to finally get a diagnosis, even though he passed us a leaflet about it and left us to it... Paige has two brothers also, who she loves to bully haha just making them show who's the boss really. She is having her tonsils and aneroids out in January due to her sleep apnea and continuous sore throats and colds, hopefully this will help, fingers crossed... Again thanks for the reply, I really appreciate it and would love to know more about you and others :)

hi Hazeyjane my two boys have kleefstra syndrome. and mummyupnorth i know how are you mummyupnorth with the weather ?