Ancient DNA Finds Rare Dwarfism in a 12,000-Year-Old Teen

Skeleton from a double burial discovered in 1963 at Grotta del Romito.

January

/ 2026

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A double burial found in southern Italy more than 60 years ago has just yielded a striking new secret: ancient DNA has confirmed a rare inherited form of dwarfism in a teenage girl who lived around 12,000 years ago, along with evidence that her close family likely helped her survive in a demanding Ice Age landscape. The research, published in the New England Journal of Medicine, is being described as the earliest confirmed genetic diagnosis in an anatomically modern human, writes a University of Vienna release.

The case comes from Grotta del Romito, a limestone cave near Papasidero in Calabria, where two individuals were buried together in an embrace. New genetic analysis shows the pair were both female and closely related - most likely mother and daughter - and the younger carried a mutation linked to a severe skeletal growth disorder.

Grotta del Romito: A Burial That Kept Its Questions

Grotta del Romito has long been famous for prehistoric activity, including rock art, and it has yielded multiple burials over a wide time span. One double burial, excavated in the 1960s, stood out because one individual was extremely short and had visibly shortened limbs, while the older person was also shorter than expected. For decades, scholars debated basic details, including sex and relationship, because bones alone could not settle everything.

Ancient DNA extracted from the dense inner-ear region (the petrous bone) changed that. The team established the two were first-degree relatives and that both were female, reframing the burial as a family case rather than an unrelated pair.

Daniel Fernandes preparing to take a sample from the skeletal remains from Romito Cave. (Adrian Daly/Wien University)

The Gene Behind the Growth Disorder

The genetic diagnosis centers on NPR2, a gene involved in bone growth. Researchers found the younger individual carried two altered copies (a “homozygous” variant), consistent with acromesomelic dysplasia, Maroteaux type, a rare inherited disorder marked by severe limb shortening and short stature. The older individual carried one altered copy (a “heterozygous” variant), which can be associated with milder short stature, matching what was observed in the skeleton, explains the report.

The discovery shows that conditions modern clinicians diagnose in hospitals today also existed deep in prehistory, and that ancient genomes can reveal disorders that would otherwise remain “invisible” in the archaeological record.

What Her Survival Suggests About Prehistoric Care

One detail has captured wide attention: despite serious physical limitations, the younger individual lived into adolescence. Researchers argue that reaching the teenage years under these conditions implies sustained help with daily life, likely including food access and mobility. In other words, the burial may be telling a story not just about genetics, but about compassion and support in a hunter-gatherer community at the end of the Ice Age.

That interpretation fits with a growing body of archaeological work suggesting that caregiving, especially within families, could be a crucial survival strategy in small prehistoric groups, even when the environment was harsh and resources were uncertain writes Archaeology Magazine.

Top image: Double burial discovered in 1963 at Grotta del Romito, a limestone cave in southern Italy. Source: Image courtesy of Dr. Adrian Daly/Wien University

By Gary Manners