More acronyms in genetics.

A new trainee in clinical genetics is confronted with a number of eponymous syndromes which need to be learned. Many of these are outlined in the FRACP clinical genetics syllabus and the Oxford Desk Reference in Clinical Genetics. A trainee needs to be able to discuss these conditions intelligently and consider them as part of a differential diagnosis, despite never having seen the condition. As well as eponymous syndromes, there are a number of conditions named after the main signs and symptoms, such as VACTERL association (vertebral defects, anal atresia, cardiac defects, trachea-oesophageal-fistula, renal anomalies and limb abnormalities. Acronyms can be a good way to learn a large of amount of information for some people, but should not be made mandatory. We previously introduced new acronyms to help memorize the clinical features of common clinical genetics conditions with the following rules (1) avoid pejoratives, (2) common conditions, (3) use the eponymous name if possible, (4) avoid 'ABCE...' etc. and (5) include scoring systems if possible. Here, we further extend upon that work and introduce thirty new acronyms: ADAM Syndr, APERT, BARDET BIEDL, BATTEN, CANTU, LOWRY Syndr, COHEN, DIAMOND blackfan, ELLIS VAN C, FABRY S, FEINGOLD, FETAL alcohol, GAUCHER, GOLDENHAR, GORLIN, GRIEG, HIPPEL, MECP2, MOEBIUS, MUCOPOLYSACCharidosis, DySTROPIA, PEARSON, Poland, POMPE, PROTUES, STEINER, STICKLER, TRECHER, TUBEROUS and WEAVER. With these new acronyms, pre-existing acronyms for named conditions (i.e., VACTERL) and acronyms available on the internet (i.e., MUSCLES for Duchenne Muscular Dystrophy) we hope to cover 100 common clinical genetics conditions.