Center for the Study of Genetic Skeletal Disorders
Changes to the jaw involve a trio of problems, including:Cerebro-costo-mandibular syndrome affects the jaw and ribs, and may affect other parts of the body.
- underdevelopment of the lower jaw (micrognathia),
- difficulty breathing because of the location of the tongue (glossoptosis),
- incomplete closure of the roof of the mouth (cleft palate).
Grouped together these changes are termed Pierre Robin anomaly. While most children born with Pierre Robin anomaly do not have CCMS, most children with CCMS have Pierre Robin anomaly.
In addition to anomalies of the jaw, those affected with CCMS have abnormally formed ribs. The ribs show small gaps in the back, or posterior, portions close to the spine where bone has not formed. Instead, the area is filled by connective tissue. Lower pairs of ribs may be very underdeveloped or completely absent. This change causes the chest to appear small.
Most individuals with CCMS are the only affected persons in their family. Rarely has CCMS been described in a parent and child, or in two siblings. As a result, the genetics and cause of this condition is very poorly understood. The clinical outcome in persons affected by CCMS is also quite variable.
Among the questions we want to answer are:
- Can we improve our diagnostic accuracy in recognizing CCMS?
- What are the causes of CCMS?
- Is it possible to better predict and treat the medical and surgical complications that persons affected by CCMS may encounter?
|Interested in participating?|
We welcome individuals and families who are affected by CCMS to participate in our research by contacting us.
To try to find the gene(s) responsible for causing CCMS, we are seeking blood samples from patients with CCMS and their unaffected relatives.
To learn about pathways involved in rib and mandible development, we are seeking tissue specimens that may be recovered at the time of a diagnostic or medically-indicated procedure.
Physicians seeking assistance in making a diagnosis of CCMS are also welcome to contact us.