Cerebrocostomandibular Syndrome

Cerebrocostomandibular syndrome, also known as CCM syndrome or CCMS, is a very rare disorder which may or may not lead to mental retardation. The side effect of a mental defect is not directly caused by the CCM syndrome, but is a consequence of respiratory distress caused by the CCM syndrome. Some research has shown that some cases of the disorder are inherited, but most seem to be random. Of babies born with this disorder, about 35% die within one year.

Side effects in the head and neck include microcephaly, or an unusually small head, and micrognathia, an unusually small lower jaw. Inside the mouth, the hard palate, or front of the roof of the mouth, may be abnormally small, and the soft palate and uvula, in the back of the roof of the mouth, may be non-existent. The tongue may also be improperly placed in the mouth of the patient, also known as glossoptosis.

CCM syndrome is sometimes known as rib-gap syndrome due to the effects it has on the development of the ribs, causing a problem known as rib dysplasia. This irregularity is what can cause respiratory distress and possibly lead to mental retardation. Postnatal growth may be slowed in people with CCM syndrome, as well as growth of the uterus in females with the disorder.

Other side effects include limb abnormalities, such as elbow hypoplasia, or underdevelopment of the elbow. The vertebrae, which are the bones of the back that form the spinal column, may fuse together, and scoliosis, a curvature of the spine, may be present. Skin may be in excess, where there is more than is actually necessary. The patient may also have an ectopic kidney, where the kidney failed to migrate to its proper position in the body and instead remained in the pelvis.

See also

More cerebrocostomandibular Information.