Dysmorphology demystified

Every doctor likes to make a good diagnosis. If the condition in question is rare, so much the better—at least in terms of professional satisfaction. No branch of medicine affords more opportunity for the diagnosis of rare disorders than clinical genetics. In this specialty the individual rarity of specific conditions, combined with the idealistic, ill comprehended nature of “gestalt” (pattern recognition) diagnosis, can create lifelong impressions in young colleagues who witness such diagnostic feats. It is self evident that the dysmorphic patient often reveals the best and the worst of humankind in doctors. Keen to reach a diagnosis, well balanced, confident physicians can be both brilliant in their recognition of the disorder and considerate towards the patient and family, controlling the all too human temptation to show off to colleagues in such situations. Conversely, those of us who daily meet such patients and their families are familiar with tales of doctors having loudly proclaimed a snap diagnosis, demonstrated signs and, as an afterthought, had a discussion or some further dialogue with the patient and family. Experience relates that snap diagnoses are often incorrect, worsening the experience from the patient’s perspective.

Paediatricians, who see children with dysmorphic features on a daily basis, are more exposed than most to these pitfalls. After all, most children with syndromes present first to their paediatrician and the identification of specific clinical signs or behaviour patterns that prompt diagnosis of a syndrome may result in an early resolution of the case. Obviously, with an experienced physician and the exercise of due care and sensitivity, much of the anxiety that surrounds syndrome diagnosis can be dissipated by the manner of discussion undertaken at the time of diagnosis. Breaking bad news is rightly an important part of paediatric training. With very rare exceptions, the diagnosis of a specific …