The “megalencephaly-capillary malformation” (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome
- Editor's Note
- The preceding Letter by Collins and the ensuing Response by Mirzaa and Dobyns raise the long-standing, never-ending issue regarding the naming of genetic syndromes. Collins (and her parent associates) objects to the recent proposal by Mirzaa et al.  to rename the macrocephaly-capillary malformation syndrome because this change is potentially confusing to families, their care providers, and anyone searching for information on the condition. As Collins points out, this represents the third name change for this entity. Mirzaa et al. proposed using the designation MCAP because megalencephaly (not simply macrocephaly) is a “striking” feature of the condition. This suggestion is compelling because megalencephaly is a more accurate description of this manifestation that occurs consistently in the syndrome.
- The naming of genetic syndromes is clearly an age old challenge. Simply peruse most syndrome entries in OMIM to witness the various names for many conditions. The naming of a syndrome by its component features has many limitations (as pointed out in the Letter), most importantly, that one or two of the features rarely captures the essence or clinical spectrum of the entity, oversimplifies designation, and overemphasizes selected manifestations.
- However, at the time of original observation and description of a condition, indicating by selected component manifestations is the simplest option. (The use of eponyms in this setting is another important topic but for a future dialogue.) This discourse underscores the need for an international committee that makes consensus recommendations regarding the naming of a syndrome.
John C. Carey
Ghayda M. Mirzaa and William B. Dobyns, Seattle Children's Research Institute, Ctr for Integrative Brain Research, 1900 Ninth Avenue, Mailstop C9S-10, Seattle, WA 98101.
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