People with dwarfism and cleft palate may have been revered in ancient times

BERLIN—Researchers have been finding them for decades: bones that are too heavy or too light; too long or too short; twisted, perforated, or studded with protruding growth. They’re a sign that someone in the past suffered from a rare disease, often defined today as affecting fewer than one in 2000 people, such as dwarfism or osteopetrosis, a disorder that causes dense, brittle bones.

But few scientists have studied these cases or what they reveal about ancient societies. An unusual workshop here this month, which drew more than 130 paleopathologists, bioarchaeologists, geneticists, and rare disease experts, could change that. “This is really the first time people have been confronted with this subject,” says Michael Schultz, a paleopathologist at Georg August University of Göttingen in Germany.

Case after case challenged the common notion that life in the past was nasty, brutish, and short. In a line of research called the bioarchaeology of care, scientists are finding that people with rare diseases often enjoyed the support of their societies, survived well into adulthood, and were buried with their communities, not as marginalized outsiders. The lifelong nature and unusual symptoms of some rare conditions—which were effectively unique in small societies—set them apart from typical diseases of old age such as arthritis. “We want to use the individual as a prism to look at the community,” says bioarchaeologist Jane Buikstra of Arizona State University in Tempe.

After excavating a partially preserved mummy buried around 1200 C.E. by the Chachapoya people in northern Peru, physical anthropologist Marla Toyne at the University of Central Florida in Orlando noted the man’s collapsed spine and bone loss—signs of late-stage adult T-cell leukemia, which probably killed him. “He had fragile bones, pain in his joints—he wasn’t walking a great deal,” she says—a tremendous handicap in his mountain homeland.

But he was buried in an elite cliffside tomb and his bones lacked signs of stress, suggesting years of light work. “We begin with the individual, but they never live alone,” Toyne says. “The community was aware of his suffering. And they most likely had to make some accommodations for his care and treatment.”

In some cases, “disease” may not be the best descriptor, because past cultures may have honored people with conditions considered disabilities today. In ancient Egypt, for example, textual evidence and iconography suggest dwarfism was considered a link to the divine, and rulers sought out people with dwarfism as companions and courtiers. “They are not considered people with disabilities—they were special,” says bioarchaeologist Anna Pieri, an independent researcher in Livorno, Italy.

Pieri recently identified two 4900-year-old cases of dwarfism in prehistoric Hierakonpolis in Egypt. The burials suggest the Egyptian fascination with dwarfs extended further back than previously known, to before the first pharaohs. The man and woman were buried at the center of two separate royal tombs. In his 30s or even 40s, the man was one of the cemetery’s oldest burials, suggesting a life of ease—further evidence of high status. Recent x-ray analysis of the bones led Pieri to suggest the Hierakonpolis dwarfs both had pseudoachondroplasia, a condition that occurs once in every 30,000 births today. Because the condition is sometimes hereditary, Pieri says the pair might have been related.

Even cleft palate, considered a deformity today, may have been viewed differently in the past. Erika Molnar, a paleopathologist at the University of Szeged in Hungary, described a man born with a severe cleft palate and complete spina bifida around 900 C.E. in central Hungary. Breastfeeding as an infant and eating and drinking later in life would have been extremely difficult for him, but he lived well past his 18th birthday. He was buried with rich grave goods—and a horse that also had a visibly twisted muzzle known as “wry mouth.”

“Was his survival a result of high social rank at birth, or was high rank the result of his deformity?” Molnar asks. “His unique position could have been a consequence of his uncommon physical characteristics.”

Archaeological cases may also offer a new perspective on rare diseases today. Last year, Trinity College Dublin geneticist Dan Bradley published ancient DNA from four ancient Irish people. One was an adult Neolithic woman buried between 3343 and 3020 B.C.E. in a tomb topped with huge stones near Belfast; the other three were men buried in a pit grave on an island off the coast of Northern Ireland between about 2000 and 1500 B.C.E. Although the DNA showed the skeletons were from different populations, thanks to a dramatic genetic turnover, all four people carried the gene that causes hemochromatosis, an uncommon condition that causes excess iron to build up in the blood.

Today, Ireland has the world’s highest rates of that mutation. Bradley suggests the gene may have some advantage, perhaps helping protect against bacterial diseases or boosting iron retention in environments with poor diet. Understanding why rare conditions pop up in certain places “may help researchers today to better understand this genetic burden,” he says.

The conference organizers, paleopathologist Julia Gresky and bioarchaeologist Emmanuele Petiti of the German Archaeological Institute here, are working with colleagues to set up a centralized database to share data on ancient individual cases. The goal is to recognize patterns by accumulating comparable data. “It’s the same problem physicians have today,” Gresky says. “If you want to work on rare diseases, you need enough patients, otherwise it’s just a case study.”

*Correction, 13 March, 11:30 a.m.: This story has been corrected to properly attribute Julia Gresky’s quote.