Cerebro-Costo-Mandibular Syndrome
Cerebro-costo-mandibular syndrome is a skeletal condition resulting in alterations to the jaw and to the ribs. The jaw changes involve a trio of problems, together termed Pierre Robin anomaly. This anomaly includes underdevelopment of the lower jaw (micrognathia), a downward placed tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate). While most children born with Pierre Robin anomaly do not have CCMS, most children with CCMS have Pierre Robin anomaly. In addition, they also have abnormally formed ribs. The ribs show small gaps in the back, or posterior, portions close to the spine where bone has not formed. Rather, 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. The abnormalities to the mouth and chest oftentimes create difficulties in breathing in early infancy. While treatment is available, a number of children die during their first year of life. Of those who survive, approximately half will show intellectual delays. Whether this is due to the underlying disorder itself or due to oxygen deprivation early on is difficult to determine. Other individuals with CCMS are of absolutely normal intellect. Affected children are at an increased risk to show associated problems. They can be smaller than expected at birth (intrauterine growth retardation) and will remain smaller than their peers throughout life. They are also more likely to have tracheal (wind pipe) malformations, smaller head sizes, spinal changes (vertebral anomalies and scoliosis), and hearing loss. We encourage physicians seeking assistance in making a diagnosis to contact us.
The genetics of this condition is very poorly understood. Most affected individuals represent the only case in their own families. Rarely, it has been reported as an autosomal dominant (passing from parent to child) or recessive (affecting siblings) condition. Much work remains to be done to understand CCMS. We have undertaken a project to better delineate this condition and its cause. We are currently collecting both information and samples from affected individuals and their families. We will use this to expand the information available on making the diagnosis accurately, predicting how any one patient will do, and what is the chance of other family members giving birth to children with CCMS. We also hope to identify the gene or genes responsible for this condition.
If you are a patient, or have a patient with CCMS interested in participating in our research, please contact us. For sample submission, have the patient (or parent) sign the CCMS consent form, complete the CCMS data collection form , and click on how to submit samples.
Additional information on CCMS can be obtained from the Online Mendelian Inheritance in Man
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