The field of genetics and the associated technologies used to understand and diagnose the genetic changes underlying these conditions have expanded and improved at a breakneck pace over the last few decades. However, the problems and questions that confront society and families dealing with these conditions are largely the same as they have always been.¹ Artists have been depicting, and therefore recording, and potentially trying to understand and psychologically process the impact of genetic conditions for many years. Historically, societies have ascribed supernatural causes to human illness in general and to genetic conditions in particular. Even in somewhat recent western societies, individuals with porphyria (or more rarely, hypertrichosis) were thought to be mythical “werewolves”. It therefore comes as no surprise that artists throughout history have found individuals with genetic conditions to be interesting subjects of their work.

Akhenaten was a pharaoh of the eighteenth dynasty of Egypt who ruled for 17 years and died in 1336 BC. Statues and reliefs of Akhenaten consistently show him with a narrow chest, gynecomastia, wide hips with prominent fatty deposits, elongated spindly limbs, neck and skull. Compared to the typical athletic appearance often seen in Egyptian art, he is the only individual portrayed with a short torso, long head, arms and feet, pronounced collarbones, a pot belly and apparently poor muscle tone. There has been much speculation about the medical cause for his appearance, including possible diagnoses of Marfan syndrome, Klinefelter syndrome, and homocystinuria¹ (see Figure 2).

Dwarfism, most likely achondroplasia, appears in works dating back to the 1600s. The master painter Diego Velasquez created various portraits of people with achondroplasia: “The Portrait of Sebastian de Morra” (1644) (see Figure 3), “The Portrait of Francisco Lezcano” (1643-1645), and “Prince Balthazar Charles with a Dwarf” (1631). Dwarfs were often kept as curiosities in royal courts and so frequently were the subjects of court painters.¹

A well-known painting by Quentin Matsys – “A Grotesque Old Woman”, also known as “The Ugly Duchess,” created in 1513, depicts a woman who was probably suffering from Paget Disease (osteitis deformans). The painting presents an old woman holding a rosebud with a caricature-like face showing deformations and disfigurement. Her nostrils, for example, are very open and excessively arched. She has broad cheeks, ears that stand out sharply from her head, and a bulging of the area beneath her nose. This typical facial appearance has been called facies leontina by clinicians, as seen in patients with Paget's disease ² (see Figure 4).

Additional artwork throughout history has tackled a variety of genetic conditions. These include “Christina’s World” (1948) by Andrew Wyeth, which most likely depicts Charcot-Marie-Tooth disease. ³ “The Portrait of Eunice Kennedy Shriver” (2009) and “Sam and the Perfect World” (2005), both by David Lenz, portray Down syndrome. Three paintings by Pablo Picasso from his “Blue Period”, portray blindness. ⁴

These include “The Blindman’s Meal”, “Celestina”, and “The Old Guitarist”, all from 1903. While it is impossible to make a clinical diagnosis of the cause of each one of these subjects’ blindness, the corneal opacification of Celestina’s left eye could be compatible with the effects of increased intraocular pressure, corneal edema and endothelial scarring and opacification. ⁵ These symptoms could have been caused by glaucoma or another genetic eye disease, leading to blindness.

Several artists have been fascinated by disorders of pigmentation and composed beautiful depictions of individuals with such conditions ranging from vitiligo to albinism. One such example is Le Masurier’s “Madeleine de la Martinique et sa mère” from 1782 (see Figure 5). Rick Guidotti began his contemporary photography project in 1998 with the long-range aim of creating stunning images of people with genetic conditions, by photographing individuals with albinism. ⁶