Severe Developmental Disabilities: Cerebrocostomandibular Syndrome

Despite any buzz within the medical community, not enough is known about Cerebrocostomandibular syndrome (CCMS, or Cerebro-costo-mandibular syndrome) as a whole, especially regarding etiology. The reason for that is because the condition is new (first recorded reference was 1966) and encompasses a great deal of symptoms, some of which are present in other disorders.

What is known and available to the layman is that CCMS is a very rare and potentially lethal developmental disorder. It is characterized most often by palatal defects, microcephaly and micrognathia, severe costovertebral defects, and sometimes, mental retardation or intellectual disability.

The earliest known reference to CCMS was made in the Journal of Pediatrics [St. Louis 1966, 69: 799-803] by a trio of professionals: pediatrician Dr. Gertrud Dina Schachenmann, pediatrician and dysmorphologist Dr. David Weyhe Smith, and anatomist Dr. Karl Theiler. The report described the syndrome in simple terms as "a new pattern of defective development." This early reference is the reason for the synonym, Smith-Theiler-Schachenmann syndrome.

Since then, reports have been few and far between, but discovery of the syndrome is sometimes credited to a description by a large group of medical professionals [B. McNicholl; B. Egan-Mitchell; J.P. Murray; J.F. Doyle; J.D. Kennedy; and L. Crome] in which they tagged the disorder Cerebro-costo-mandibular syndrome, and called it "a new familial developmental disorder."
By 2004, less than fifty cases of CCMS had been reported and the condition appeared to strike male and female fetuses sporadically and without any apparent proclivity toward one gender over the other. A CCMS diagnosis can sometimes be made before birth through the study of ultrasound imagery, which can reveal rib defects and lesions, as well as micrognathia and microcephaly.

There are twenty-three main manifestations or characteristics of CCMS and thirteen sporadic features that do not occur in every case.