What’s in a Name?
A research paper was published early this year that compares M-CM and MPPH syndromes, which both have megalencephaly as a characteristic. Included in that paper was the proposal to rename M-CM from "macrocephaly-capillary malformation" to "megalencephaly-capillary malformation" with a new abbreviated name of MCAP.
The subject of the paper is not nomenclature, but this detail could have significant implications for M-CM patients. M-CM was first identified in 1997 and at that time was called macrocephaly-cutis marmorata telangiectasia congenita or M-CMTC. In 2007, the current name was proposed because the initial name did not accurately describe the skin markings in M-CM.
The proposed new name does not correct an inaccuracy, and we feel that it introduces unnecessary chaos into the business of caring for people with M-CM. From our perspective, there is no problem that this name change solves. In fact, we think that a search on "macrocephaly" is more likely to be performed by someone looking for a diagnosis since "megalencephaly" would only be determined as a result of imaging. We see no reason to change the abbreviation from M-CM to MCAP.
We hope that researchers and clinicians do not adopt this new proposed name and continue to use M-CM, macrocephaly-capillary malformation. It is our opinion that the purpose of a name is to serve as a stable placeholder for discussion of something, and changing the name yet again subverts that purpose, causing confusion and problems for patients and for the people who care for them.