Cornelia de Lange Syndrome (CdLS) is a congenital syndrome (condition present from birth) that affects roughly 1 in 10,000 children. It is caused by a random genetic mutation (alteration in a gene). About 40% of affected individuals appear to have changes in a certain gene (NIPBL) on Chromosome 5; about 5% of patients have mutations on the SMC3 and SMC1A genes on the X-chromosome.
(We have since had another pregnancy since Ben’s birth; you can read about our experience with prenatal and genetic testing for CdLS here.)
People with CdLS often have similar physical features. Since current genetic testing for CdLS identifies only about half of affected individuals, most diagnoses are based on signs or symptoms present in the child. Not every child will have all of these signs, but Ben has most (but not all) of the following:
- Low birthweight (often less than 5 lbs)
- Small head size (microcephaly)
- Slow growth and short stature
- Thin arched eyebrows that meet in the middle
- Long, curly eyelashes
- Thin downturned lips
- Short upturned nose
- Developmental and speech delay
- Mental retardation (ranging from mild to profound)
- Gastroesophageal reflux and feeding difficulties (some children require feeding tubes)
- Hearing loss
- Visual impairment and ptosis
- Cleft palate
- Heart defects
- Structual abnormalities of the GI tract
- Abnormalities of the limbs (usually the arms and hands)
- Seizure disorder
In addition, there appears to be somewhat of a spectrum with CdLS; some children are very mildly affected, while others (like Ben) are on the more severe end.
To learn more about CdLS, please visit the CdLS Foundation Website (it’s where I found most of the information printed on this page!) and check out the FAQ.
For more technical/medical information please visit GeneReviews which goes into great detail about the syndrome itself and also the molecular genetics behind the syndrome. Or check out this article from OMIM. Not for the faint of heart! Better break out those biology texts! 😉
Ben and his Brothers: Life with 4 boys and CdLS 
December 15, 2006 at 8:38 pm
I just found your blog. I clicked on the link and saw Ben’s cute little picture and was intrigued. I don’t know much about CdLS but wanted to tell you that you have one adorable little boy. He is REALLY cute!
Of all of the pictures you posted, this one is my favorite.
It looks like you have a nice little family. Thanks for sharing your story. I hope things get easier for Ben and your family.
December 15, 2006 at 11:04 pm
Thanks, Dream Mom. We think Ben is cute too! 🙂
My husband Mark actually took that picture; it’s one of my favorites. I wish I could take credit for it!
I hope things get easier as Ben gets older, but I suspect it might not be necessarily easier; we will just have different challenges. You know how that goes. All the best,
– Karen.
May 2, 2007 at 7:24 am
We just wanted to say Happy Birthday to Ben! It seems like only yesterday that Baylee was Ben’s age, so small and cute and full of smiles. There will be different challenges as he grows, but there will also be big victories and lots of surprises, too!
May 5, 2007 at 10:15 am
He’s beautiful, thank you for sharing him!
May 5, 2007 at 2:53 pm
Thanks Christy, Baylee and Jennifer!
August 23, 2007 at 4:39 pm
I just found your website, and I had to post and say that Ben is ADORABLE! We have a little girl that also has a rare syndrome…Rubinstein Taybi Syndrome. She also was born with an unrelated liver disease that caused her to have a liver transplant when she was 7 months of age. We were told many grim things about her future when she was born. I’m not going to say that I don’t have fears about her future anymore, however it’s amazing how time has healed my broken heart (does that make any sense?). I can now accept that she has special needs. Some parents say that they were able to accept that right away. It took me a little longer, but my Emma is now 4 years old…..and she is amazing!!! Your Ben is amazing too….I can tell fromt the pictures (although I am sure that you already know that). OK….I’m rambling here. Just wanted to post. Feel free to contact me if you want to talk.
November 5, 2007 at 5:58 pm
Awww…what a sweet boy. I have three kids with a genetic syndrome; two are pretty much okay (if by okay you mean developmentally delayed, anemic, bleeding disorder, etc. but basically healthy, if that makes any sense) and one is less so. I saw the enteral pump tubing coming out of the baby jammies and thought “awwww that looks familiar…”
December 11, 2007 at 12:51 am
He is so adorable! I think I stumbled on this through your spouse’s blog. I don’t even know how I got there…searching about cooking or something on google…
Thank you for sharing your story. You really have a beautiful family!
May 1, 2008 at 10:44 pm
I just found this and I think Ben is cute 🙂 hope he’s well and healthy
September 16, 2008 at 3:07 pm
It is a “God thing” when I stumble upon sites like yours! I too am a special needs mom. (autism) Been through the broken heart days, surrender, acceptance, and actually many many victories since those early days. We are blessed aren’t we? WE WERE HAND PICKED AND TRUSTED WITH OUR LITTLE ONES – NO ONE ELSE WOULD DO!! Ben really is a handsome fella, as are your other sons… they will be stronger and more compassionate men because of the love they know now because of Ben.
The world may not always understand our lives, but our children make the world a better place. This side of heaven, none will ever be more innocent than ours! Bless you and yours and thank you for sharing your story for others to be encouraged by.
Very Sincerely,
Cameron’s mom, Jennifer
September 24, 2008 at 8:19 am
I just wanted to say that you’re little boys are beautfiul, but I’m sure you know that! I love Issac’s smile in the pic to the left – it looks like he’s all boy. Poor “mom!”
I love your attitude and outlook, which is probably why life knew you’d be a perfect mommy for such a beautiful bunch of children.
My prayers are with you and your family, I admire your courage. You’re in the middle of a very special life where each day is it’s own special challenge. But each day is its own special gift as well.
January 17, 2009 at 9:32 am
hi
i want to say that you have a lovley baby
and also that i have a CDLS son he looks a little bit like your son. i would reealy like to talk to you about this
my email is s*****@hotmail.co.uk
thank you 🙂
February 27, 2009 at 6:02 pm
Hi! I came across your blog through it being linked on Lisa Leonard’s site. Your children are beautiful! Thank you for such an inspiring site. May you have a wonderful 2009.
March 22, 2009 at 2:02 pm
i met a guy that i think had this and well he had the deformation on his hands, but he was a really great runner, so all of us runners were good friends to him. and i think he had special kind of car for steering or something. i am late-deafened from a different disorder, neurofibromatosis. thats how i ran across blog. have a good day and god bless!
August 16, 2009 at 11:19 pm
Hello,
Your children are gorgeous! Your website is so bitter-sweet for me, my husband and I also have a miracle baby with a chromosome disorder; 18p- (www.babyafton.com). Your optimism and love for your Ben is so beautiful. Thank you for sharing your story and Bens life with us.
Most sincere and best wishes to you and your family,
Shauna
January 10, 2010 at 12:23 am
I found your website while searching for a recipe for Geera Pork. I have never heard of CdLS syndrome and followed your link to learn more. Best to you and your beautiful family.
Anne, a fellow Trini
Alberta, Canada
January 27, 2010 at 6:24 pm
I was looking thru some photos of “hearing” that I was going thru to put into a power point of Hearing Health for my work. I saw the photo of Ben and clicked on it and it took me to your site. I just read and read your blog. What a blessing. Thank you so much for sharing your life and family with us. May God’s tender mercies embrace your family as I know He already has. Peace and love to you from a grandmother of a 16 month old “wild thang”.
October 25, 2010 at 12:31 pm
HI sweetie: I just came across your site looking for info about the mickey-button and possible challenges. First of all peace and blessings to you for this blog…already this morning it has given me hope and strength. Your Ben is a little Angel, he looks so sweet. My son Brayden was born with several different diagnosis at birth and had to have 43 minutes of CPR, but like your Ben GOD has blessed him to see much better days now. He went form having a lung condition, a heart condition, total renal failure and many other things to being a mostly healthy four month old with Dsphagia, GERD, And CLD…he is totally NPO(nothing by mouth) and has a mickey button which was just placed last Tuesday and to be honest I was freaking out a bit. But thanks to you and your beautiful families example, I know that my family and I are going to be o.k. I will keep following your blog and praying that Ben’s testimony will forever be greater than his tests!!!
November 8, 2010 at 10:44 pm
Many blessings to you and your lovely family! I was looking for Family Turkey Projects and came across your site. Life is full of unexpected turns and challanges, but it is our take on them that really defines who were are. I believe happiness is a choice. Enjoy!
December 2, 2012 at 1:01 am
hello… i just wanna say how grateful me and my husband are when we found your blog, really help us alot with my son’s treatment who also has cdls. from your blog we learn about gastric tube and fundoplication, which never been discussed by my son’s doctor. now my son is already fed thorugh gastric tube and already performed fundoplication. we can give him more volume of milk and the vomitting is reducing alot. thank u so much, your family is our inspiration! hige hug and kisses for Ben! 😉
April 20, 2015 at 11:46 pm
Karen Im from Morinville Alberta and have a 2 1/2 year old daughter with CdLS I would love to connect with you! Please email me or call me! kassmayr@outlook.com
August 20, 2015 at 12:55 pm
Hello,
My name is Dorsa. I am an intern with Rare Genomics Institute and RareShare this summer. We are helping research information on rare disease and I am looking to interview experts/patients about different diseases to help patients with these diseases.
I am working on disease CdLS. I understand your son has been battling this condition. I’d really appreciate it if you could share your experience with us through a phone interview.
The interview should take no longer than 30 minutes and we will send you the interview questions beforehand.
Please contact me through my email at rare.dorsa@yahoo.com if you are interested and we can schedule the interview.
Best,
Dorsa