Cornelia de Lange Syndrome

[rull13 @]

Hi everybody,

Has anyone come across this syndrome in their clinics? I would be very interested in discussing it.

Raul

[Julie Henderson @]

This maybe a little late as you request was posted a while ago and Ive only just seen it.
I did a brief talk on this syndrome for an in-house paed meeting. I also followed it up with a case study from a child who was seen at another hospital. I can email you the info if you contact me.

[rull13 @]

Hi Julie,

Thanks for last years post. I'm still interested in receiving the info if you still have it.

Please let me know.

Kind regards,

Raul Garcia

[Amani]

Hi everybody,

Has anyone come across this syndrome in their clinics? I would be very interested in discussing it.

Raul

Hi,
1st time I hear about this sydrome - maybe because its so rare.

This syndrome is rarely seen in clinics. There are four main features in this syndrome which vary from mild to severe. Children with CdLS are small at birth and remain small compared to children of the same age. They are all slow learners but this varies from mild to severe. Most children have limb abnormalities which range from extremely small hands to complete absence of forearms. The most striking feature of the syndrome is that all the children are alike, like brothers and sisters.

Most children with the syndrome have some hearing impairment and in some cases this may be severe enough for them to need hearing aids.
This may prove difficult as these children usually have behavioural problems hence making it harde to conduct a hearing test/give hearing aid.
Research is currently going on at Birmingham University and USA into the behavioural problems in children with CdLs.

It is important that you encourage the childs parents to take him/her to regular speech therapy

Hope this has helped
the information is from a useful website dedicated to this sydrome:
http://www.cdls.org.uk/information/12.htm

[KAE]

We have a child with CdLs attending our clinic, and hence have done some research into the syndrome/main features.

To add to previous entries, it is believed to have an autosomal dominant pattern of inheritance and most cases occur in people with no family history resulting from new mutations.
Hearing loss is reported in approx 60-80% of affected children and is stenosis of the EAM's is common (www.slh.wisc.edu/genetics/cornelia.pdf)

[rull13 @]

Excellent stuff! At least there are some information going on. It certainly is rare.

I contacted the the CdLS Foundation here in the UK to see what they do and to enquire about the possibility of participating in a piece of research that we are designing. I did not find them particularly helpful at all.

It would be ideal to recruit at least 20 cases but it seems like it is going to be harder than expected.

Any ideas?