12,000-year old skeleton DNA reveals ancient case of severe dwarfism and the loving care her family provided

Embargoed until: Publicly released: 2026-01-29 09:00

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International researchers have used ancient DNA to genetically diagnose a rare disease in a person with short stature who lived over 12,000 years ago. The team tested two skeletons which were unearthed in an embraced position in 1963 from an unusual grave in Romito Cave in Italy. One labelled Romito 1, was a short adult 145cm tall, while the other, labelled Romito 2, was a 110cm tall adolescent. Genetic material from the inner ear was tested and the individuals were found to be female, first-degree relatives (such as a mother and daughter, or two sisters) from a hunter-gatherer population. While they had trouble testing DNA for Romito 1, Romito 2 was found to have typical features of cromesomelic dysplasia, Maroteaux type (AMDM), a genetic disease affecting skeletal growth, which would have challenged her movement over distance and across terrains, as well as limited movement in her elbows that would’ve affected her daily life. Her diet and nutritional stress appeared similar to other Romito people, the team adds, and this along with her survival until adolescence implies others in her family group provided care.