Cleidocranial Dysplasia: A Rare Genetic Birth Defect That Touches My Heart--Because My Oldest Daughter Has it

I was a teenager when I had my first child. I had an ultrasound at 13 weeks and the physician didn't see anything abnormal with my pregnancy. I was still stunned at that point that I was pregnant at all. I did not have a follow-up ultrasound as my pregnancy progressed, so when I delivered I had no idea whether I was expecting a boy or a girl--as a matter of fact, I thought I was having a boy (this was my killer instinct telling me what was up. I even brought a BLUE outfit to the hospital to take her home in).

After I delivered her I immediately heard whispering. I didn't know what was going on. She looked perfect to me. 5 pounds, 9.5 ounces, 19.5 inches long...of sheer perfection. Although, I was still STUNNED that she was a girl. Her newborn APGAR scores were 9 and 10. There was no indication to me that anything was "wrong". However, the hospital staff kept saying, "Well, we just want to have her looked at a little further...".

I still didn't notice anything was wrong with my daughter. She responded just like a newborn would to everything. The hospital staff and doctors said they were concerned with the size of her head relative to her body. She passed all of their tests with flying colors. They wanted me to follow up with genetic testing at Children's Hospital when she was three months old. I thought they were crazy--How could they not see that there was nothing wrong with this baby? I thought they were all hallucinating. She still looked perfect to me. However, she did have a bit of a big head. I took her in for the genetic testing they suggested.

We were at Children's Hospital in Denver for about 20 minutes before a physician sat my baby up on a table and said, "I think I know what's wrong with her!" She took my daughter's arms, crossed them over one another, and her shoulders touched together at midline. They took her off to X-ray. It was confirmed--my child had no collarbones. Zero. Zip. Zilch. There was nothing there.

Cleidocranial Dysplasia is an autosomal dominant genetic birth defect that only about 500 people in the entire world have. By being "autosomal dominant" it means that my daughter has a 50% chance of passing it on to her offspring. When I researched it, it turns out that the documented origin was in Africa--and it was perpetuated by a guy who was born with it, but who also had like 50 wives and passed it on through them to his children. This is not something you can "catch". It is either something that is passed on through genetics, or it shows up as a new genetic mutation in pregnancy (AKA--a fluke). It is VERY RARE.

"Cleidocranial Dysplasia" literally means, "Abnormal formation of the bones of the head, and the collarbones". When the nurses in the hospital suspected my child was "abnormal" after delivery it was because her head was BIG. And there was a reason for that. NONE of the bones in her head were as close together as they were supposed to be. Her "soft spot" was the entire top of her head. It took 8 years to close.

This picture shows the abnormally large cranium of Cleidocranial Dysplasia. There are no mental deficits in people who have CCD--they just end up with larger-than-normal foreheads and a "soft spot" that may or may not ever close. Thankfully--Paige's did.

This X-ray in a CCD child shows the partial collarbones. There can be partial collarbones in some cases, or "stubs". My daughter did not have any evidence of clavicles.

There are a few other things that go along with Cleidocranial Dysplasia. These people have an abnormally narrow pelvis--and they are "SMALL". My daughter is nearly 20 years old. She is 4'11" tall, and she weighs 80 lbs. I am 5'8" tall, and so is her father. Neither of us have CCD in our history. This was either a "new mutation" in pregnancy, or it is also possible that it is a result of many X-rays I had taken after a car accident I got into prior to learning that I was pregnant. I will never know. Regardless, because of her small pelvis, she will have to deliver any children she has via C-Section.

Another thing that goes along with Cleidocranial Dysplasia is having extra sets of teeth, or missing teeth. My daughter was born with one set of baby teeth, and two sets of adult teeth--at one point she had three front teeth as a child. She had to have them removed, chained, and braced. She ended up with a normal set of teeth, but she had to have all her teeth removed at one point in order to chain the embedded adult teeth and bring down into her mouth.

This picture illustrates the large head, and lack of collarbones that accompany CCD.

My daughter also has an enlarged rib cage, and slight scoliosis that are part of the CCD. You can see her small frame--again, she is 80 lbs. To put it into perspective, my 9 year old twins wear the same size clothing, and weigh nearly the same as she does.

This picture shows the super narrow pelvic region and the wider rib region that my daughter has because of CCD. The only other minor things that she has "rounded" fingernails (not that you can tell by her acrylics here), and a signature "nostril flare" that is characteristic of CCD. Mentally, and physically she is completely intact. She can do anything anyone else can do.

There was an incident years ago where a CCD person was the only one who could fit down a well to rescue a child who had fallen down there--nobody else could make themselves small enough to fit down the well, but the lack of collarbones allowed for it.

This is my baby girl at Homecoming during her senior year. She is now a sophomore in college--and still the same size. Her CCD does not slow her down at all. She is "petite", and she shops accordingly. She is a pistol--like her momma. When I told her that she has a 50% chance of passing this on to her children her exact quote was, "Meh, they can just SUCK IT UP!"

I wrote this blog to give you all a little insight into my world. I also wanted to post this because people from around the world read my blog--and information on CCD is hard to come by. Especially personal stories. People with CCD can lead VERY NORMAL LIVES.She embraces her differences and wants people to be educated about CCD--she is actually posting my blog entry on her blog to educate people. My daughter is beautiful, and perfect in EVERY way. I couldn't have made her better myself. ;)