Genetics in Art and Art in Genetics is an engaging article published in Gene in 2014 by Bukvic and Elling. They gathered the pictorial evidence that reveals the fact that artists have recognized for centuries, if not millennia, at least four inherited anomalous of appearance. And they throw in Akhenaten too—as a wild card.
Our goal here is to provide a survey of their survey, which, they acknowledge, owes much to the work of Professor AEH Emery and his Genetic Disorders in Portraits. You can their article from Science Direct for about $35 (Gene is published by Elsevier) or for free from Research Gate. Research Gate is a subscription service available to anyone with an academic email address. (I used my alumni account from medical school). But this particular article was free to view and download without an account.
That said, here is the overview, by putative genetic condition. I recommend reading the original, as we give here just one pictorial example of each condition, along with a very synoptic description of the painting and supporting evidence.
Down Syndrome (trisomy 21): Madonna and Child. Andrea Mantegna (1431-1506)
Mantegna influenced Dürer and Da Vinci. In that era persons with mental defects were generally depicted as comic or evil. However we have here an exalted depiction of an apparently mongoloid child. It has been claimed that the powerful Gonzaga family were his patrons, and that they had a child with Down’s—as did Mantegna himself.
Here seen as features that suggest the diagnosis: “oblique eyes, possible epicanthic folds, a small nose, an open mouth, an adenoidal expression, a prominent tongue, square hands, an incurving little finger, wide spacing between the first and second toes of the foot, and a short and broad neck.”
Angelman Syndrome (defective UBE3A gene): Portrait of a Child with a Drawing. Giovanni Francesco Caroto (1480–1555).
It is hard to know which is more odd—that Dr. Angelman in the mid-sixties happened to have three children with similar, and rare, features admitted to his pediatric practice, or that he later saw, while visiting on vacation the Castelvecchio Museum, the unique semblance of these children depicted in a painting of a child holding a drawing of a puppet. He called his cases “The Puppet Children”. Now known as Angleman’s syndrome, the features are “a very happy demeanor with a rictus smile…frequent laughter… seizures and jerky movements.”
Prader-Willi Syndrome (multiple chromosome 15 errors): La Monstrua (i.e. Doña Eugenia Martínez Vallejo). Juan Carreño de Miranda (1616–1685).
This child was an a curiosity to the court of Charles II of Spain. At 6 years old she weighted 55kg. This picture here shows the short stature and a homage to the associated hyperphagia: an apple in one hand andbread in the other. Upon viewing this picture, it was immediately recognized for it’s likeness to Prader-Willi patients when viewed in person by—Dr. Prader.
Noonan Syndrome (RASopathies). Among Those Left. Ivan Le Lorraine Albright (1897–1983).
The blacksmith seen here is “…a man of short stature whose widely spaced eyes angle downward under drooping eyelids with eyes turning outward to his low, prominent ears. His shirt is open to reveal the hollow of his sternum [pectus excavatum].”
Dwarfism (FGFR3 achondroplasia). Portrait of Dwarf Morgante. Agnolo di Cosimo (aka Bronzino) 1503–1572.
The “small stature with [r]hizomelic (sic)* shortening of the arms and legs with redundant skin folds on limbs, limitation of elbow extension, short fingers, trident configuration of the hands, bow legs, exaggerated lumbar lordosis, large head with frontal bossing, midfacial retrusion and depressed nasal bridge…” are features of a number of paintings of dwarfs, as often found in the retinue of royal courts. (*proximal limb shortening).
Akhenaten (something genetic not quite right here?). A. Limestone relief, Royal Tomb at Amarna. B. A statue of Akhenaten now in the Cairo Museum. circa 1335BCE.
The authors point out the “… narrow chest with gynecomastia, wide hips with prominent fatty deposits, elongated spindly limbs and an elongated neck and skull. Compared to the normal athletic appearance, 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.”
Consider and dismissed as explanations are Marfan’s, Turner’s, Klinefelter’s and homocystinuria. The odd morphology of Akhenaten remains unsolved, an open challenge to the curious.