Author: Anastasija Zaičenko
Art and medicine have always been connected. The depiction of medical conditions in art can be useful in studying the history of medicine. Famous artworks quite frequently present medical anomalies, including genetic diseases. In this article I’m going to show you famous paintings , in which diseases and disorders are presented.
Arthritis in the paintings of Sandro Botticelli
Rheumatoid arthritis is an autoimmune disease that primarily affects joints. As a result, joints are stiff, warm, swollen and painful. Joints of the wrist and hands are involved most often.
Rheumatoid arthritis as a disease was first described in 1800. Nevertheless, in Botticelli’s paintings we can identify fingers that were affected by this disease.
Sandro Botticelli, “Saint Augustine in His Studio”, 1480.
If we take a closer look, we can find joint deformities of the interphalangeal joints in the fingers of the saint that is a common sign of this disease.
Sandro Botticelli , “Portrait of a Youth,” 1483.
This Botticelli’s artwork presents rheumatoid changes in wrist, affecting metacarpophalangeal (joint between metacarpal bones and proximal phalanges of the digits) and proximal interphalangeal joints. We can conclude that it is juvenile arthritis because the represented person is a young man. 
Down Syndrome in Renaissance art
Down syndrome is a genetic disorder caused by the presence of a third copy of the 21st chromosome, instead of the usual two copies. The extra chromosome deregulates gene expressions in the brain, that result in mild to moderate intellectual disability and characteristic facial features, e.g. short neck, flattened facial profile and nose, small head, ears and mouth, almond-shaped eyes.
Down syndrome was identified in the mid-1800’s by John Langdon Down. 
But there are facial appearances of Down syndrome in Renaissance paintings.
Unknown artist, “The Adoration of the Christ Child”, 1515.
In this painting there are angels with common facial characteristics of babies with Down syndrome.
Filippo Lippi, “Madonna of Humility with Angels and Saints”, 1430.
The painting shows the representations of two angels with some facial features common in Down syndrome.
Paget’s disease in 16th-century portrait
In 1869 Wilks described the condition that Sir James Paget called osteitis deformans. Osteitis deformans, also called Paget’s disease of the bone interferes with the patients’ bodies normal recycling process, in which new bone tissue gradually replaces old bone tissue. In Paget’s disease the rapid remodeling produces bone that’s softer and weaker than normal bone. 
Quentin Matsys, A Grotesque Old Woman, 1513.
In Matsys’s painting we see common pagetoid features, such as deformed skull and clavicles. This disorder mostly affects elderly people.
Melchior’s myotonic dystrophy
Myotonic dystrophy is a progressive genetic disorder that is characterized mainly by myotonia (impaired muscle relaxation), progressive muscle weakness (especially of distal limbs, the neck, and the face), muscle wasting, and variable multisystemic features.
Pieter Bruegel the Elder, “The Adoration of The Kings”, 1564.
In this artwork Melchior’s face (taken in the red circle) has features of myotonic dystrophy such as bilateral facial drooping, partial ptosis (falling of the upper eyelid) and premature frontal balding.
„Pigeon-chested man” with Marfan syndrome
Marfan syndrome is a genetic disorder of the connective tissue. Connective tissue is found throughout the body. That’s why Marfan syndrome can cause wide varieties of skeletal, ophthalmological and cardiac abnormalities. 
Christian Schad, “Agosta the pigeon-chested man and Rasha the black dove”, 1929.
Looking at Agosta we can see the classic signs of Marfan syndrome: tall and thin body type, deformity of the anterior thoracic wall called pectus excavatum, relatively long arms and fingers, and also a curved spine.
An interesting fact is that the title of this painting is incorrectly translated as “Agosta the pigeon-chested man and Rasha the black dove”, when the dominating feature is pectus excavatum (caved-in chest) rather than pectus carinatum (caved-out chest). 
Self-portrait of rehabilitation period
A Mexican painter Frida Kahlo (1907–1954) is best known for her self-portraits.
Kahlo had poor health in her childhood. Affected by poliomyelitis, at the age of 18 she was involved in a road accident and suffered serious injuries. She had fractured ribs, pelvic bone, both her legs, collarbone and displaced three vertebrae. Kahlo also was impaled through her pelvis by an iron handrail. She underwent numerous orthopaedic operations. Her treatment included wearing corsets for several months. Certain experts believe that from that time Kahlo suffered from widespread severe, chronic pain and profound fatigue suggestive of post-traumatic fibromyalgia.  
Frida Kahlo, The Broken Column, 1944.
This self-portrait represents pain and suffering. Kahlo’s metal corset holds together her broken body.
I want to remind you that everything written in this article are only hypotheses. We can only speculate about signs from artwork to make diagnoses. But there is no doubt that art can be used to educate us about the evolution of diseases and their treatment for hundreds of years. Diseases have always gone hand-in-hand with civilisation, and the fact that we have discovered them does not mean that they did not exist before.
Maybe you know more artwork, in which diseases and disorders are presented? Share your knowledge in the comments!
 Alarcón-Segovia D. et al, Probable depiction of juvenile arthritis by Sandro Botticelli. Arthritis & Rheumatism. 1983. 26(10): 1266-1268.
 O’Connor C., Trisomy 21 Causes Down Syndrome. Nature Education. 2008. 1(1): 42.
 Laskowska M. et al, Genetic diseases and other unusual disorders presented in art paintings. Folia Medica Lodziensia. 2012. 39(1): 5-19.
 Mayo Clinic Staff. “Paget’s disease of bone.” Mayo Clinic, Mayo Foundation for Medical Education and Research. August 09, 2017.
 “HOW IS THE BODY AFFECTED?” Information from The Marfan Foundation homepage
 Martínez-Lavín MD et al., Fibromyalgia in Frida Kahlo’s life and art. Arthritis & Rheumatism. 2000. 43(3): 708-709.
 Hinojosa-Azaola A. et al, Art and rheumatology: the artist and the rheumatologist’s perspective. Rheumatology. 2014. 53(10): 1725-1731.