What's in a name?

✍ Scribed by Gardner, R.J. McKinlay

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 885 B
• Volume: 84
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19990521)84:2<178::aid-ajmg19>3.0.co;2-m

✦ Synopsis

Dr. Schrander-Stumpel is quite right. We need to show some sense and sensibility in naming syndromes. Devising nomenclature is a different exercise from playing Scrabble. CRASH and CATCH22 may have some use as mnemonics, but are not necessarily helpful in dealing with parents and patients. These examples are not as groanworthy as CHILD (congenital hemidysplasia, ichthyosiform erythroderma, limb defects), GRANDDAD (growth delay, aged facies, normal development, deficiency of adipose tissue), LEOPARD (lentigines-get it??-and various other things), and the all-time shocker, ACHOO (autosomal dominant compelling helioophthalmic outburst).

When the basic defect is known, there is the opportunity for a definitive naming; 22q deletion syndrome will do instead of CATCH22, for example. Dr. Schrander-Stumpel suggests "L1 syndrome" for Xlinked hydrocephalus and the other phenotypes due to mutation at this locus. I'm not so sure. It's just a bit too bland (and it might get confused with Li-Fraumeni). But it is greatly preferable to CRASH.