Pediatric cerebrocostomandibular syndrome (CCMS)
Pediatric cerebrocostomandibular syndrome (CCMS) is an extremely rare condition in which a child will have an abnormally small jaw, malformations of the palate, improper tongue position and abnormal rib development.
What is pediatric cerebrocostomandibular syndrome (CCMS)?
Cerebrocostomandibular syndrome (CCMS) is a rare condition that affects the jaw, mouth and ribs. Researchers have documented fewer than 100 cases of CCMS.
Most children with CCMS have what’s known as Pierre Robin sequence. This is a set of abnormalities affecting the head and face, including a small lower jaw and a tongue that starts further back than normal that can block the airways.
What is the difference between Pierre Robin sequence and CCMS?
The difference between Pierre Robin sequence and CCMS is the presence of the rib abnormality. Children usually have 12 pairs of ribs. With CCMS, some ribs may be absent or not form completely. Also, abnormal gaps can occur in the back of the rib cage, which can change the appearance of the chest.
What are the signs and symptoms of pediatric cerebrocostomandibular syndrome (CCMS)?
Abnormal rib development
Abnormally small, underdeveloped jaw (micrognathia)
Difficulty swallowing or feeding
Vision problems
Improperly formed palate and abnormal tongue position
Intellectual difficulties caused by lack of oxygen and respiratory distress
Malformation of the head and facial area
Microcephaly (smaller than the average head size)
Respiratory difficulties
Slow growth in the mother’s womb and after birth
Smaller than normal jaw
What are the causes of pediatric cerebrocostomandibular syndrome (CCMS)?
Most cases of CCMS are sporadic and are not a result of an inherited condition. However, some cases are linked to a genetic condition.