Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme

Abstract

Today's medical genetics covers a vast territory that ranges from the minutiae of deep sequencing to the details of the clinical picture to the expansive breadth of global population-based studies. Dysmorphology skills help to standardize the description of the physical phenotype, further allowing for precise clinical-genetic correlations to be established. Not surprisingly, physicians over the centuries have repurposed dysmorphology in the effort to diagnose medical conditions in works of art and antiquities. Geneticists have recognized that syndromes and birth defects are portrayed in statues and paintings ranging from ancient sculptures to more recent European art (Emery & Emery, 1994). For many, a visit to a museum is transformed by the discovery of a sculpture or painting that hints at a genetic basis to a physical difference or unusual facial feature. This unique issue of the Seminars of the American Journal of Medical Genetics strives for a fresh perspective, expanding beyond portraits by European masters to a global examination of varied media.The authors have tried to convey the viewpoint of the subject and the culture with respect and empathy. We were attuned to the use of potentially offensive terms (e.g., "dwarf," "monster," "creature") and acknowledged their historical context if the authors were unable to remove or substitute. We are aware that an article might be read by a parent or person with the disorder or malformation being discussed, and we made our best effort to remove hurtful terms.Nonetheless, we apologize to any individual who might be distressed.