Cerebrocostomandibular Syndrome was the diagnosis given to Abby when she was less than 12 hours old. We were hoping against hope that the geneticist was wrong, but she wasn't. Some of you are relatively new to this blog, and it's been a while since I gave a big explanation of her entire complex syndrome. Continuing with our countdown to #rarediseaseday, I thought it would be good to share the basics. So what is CCMS?
CCMS is an extremely rare inherited disorder with approximately 65 documented cases. characterized by an abnormally small jaw, a cleft palate, improper positioning of the tongue, and abnormal development of the ribs. One third of children also have very small heads (microcephaly). In most cases, such abnormalities contribute to significant respiratory problems during early infancy.
Abby has all of these symptoms. About half of her ribs are in multiple pieces. On an xray, it looks like someone took a hammer to her ribs. These rib gaps have kept her lungs from growing like they should. Before the VEPTR was implanted, her lungs and spine were the size of a newborn's. We are so thankful that the VEPTR is giving her room to breathe!
Her cleft palate was repaired at age 1 and her jaw was brought forward 10 mm at age 4. We will most likely have to put her through another painful jaw distraction when she gets older, as the jaw often retracts as kids grow. But we aren't going to think about that for a while...
Although some affected individuals have normal intelligence (like Abby), others exhibit moderate to severe cognitive delays (yes, I had to change this from "mental retardation." UGH...). It is thought that the cognitive delays are really caused by a lack of oxygen from pulmonary issues, not as part of the actual syndrome. There is currently a study being done in Canada to isolate the gene that causes CCMS. We are a part of this study and it was found that I have the same extra gene that Abby does. At this time, very little is known about the cause. We are hoping that changes!
In infants with cerebrocostomandibular syndrome, the rib gaps may cause the upper chest to appear abnormally small, flat, and narrow; result in instability in portions of the chest wall; and contribute to abnormal breathing rhythms (this is sometimes called flail chest and can cause them to belly breathe). Affected children may also be especially prone to repeated respiratory infections. Such respiratory abnormalities may potentially result in life-threatening symptoms (now do you see why I freak out over colds?!?!).
Abby's got all of this, but it's her normal. I have to say that it is kind of fun to watch new nurses check her breathing...it tends to freak people out! I just calmly tell them that this is normal for her. Their eyes get big and slowly nod, no doubt thinking this kid has some issues.
Due to severe underdevelopment of the jaws, the cleft palate, and/or other associated abnormalities, many infants with Cerebrocostomandibular syndrome may also experience feeding difficulties and fail to gain weight at the expected rate (failure to thrive). Um, yes. Still working on all of that. It's a long process.
In some cases, affected individuals may also exhibit additional physical abnormalities such as improper development of bone and/or cartilage of the windpipe (trachea), elbows, and/or hips; webbing of the neck (pterygium colli); hearing loss due to improper conduction of sound from the outer or middle ear to the inner ear (conductive hearing loss); and/or speech impairment. Yes to the hearing and speech issues, but everything else seems to be a-ok!
Symptoms of the following disorders can be similar to those of Cerebrocostomandibular Syndrome. Comparisons may be useful for a differential diagnosis:
Pierre Robin syndrome is a sequence of abnormalities that may occur as part of a distinct syndrome or as part of another underlying disorder such as cerebrocostomandibular syndrome. It is characterized by underdevelopment of the jaws, improper, downward displacement of the tongue, and a cleft palate. The major difference between PRS and CCMS is the rib gaps. Abby was diagnosed in utero with Pierre Robin because the ribs couldn't be clearly seen on the sonogram. We are so grateful that the sonographer caught Abby's small jaw at my 18 week sonogram, because that started the ball rolling in Abby being delivered at a hospital with a Level 4 NICU).
So that is CCMS in a nutshell...our very own rare disease!