The term mandibulofacial dysostosis is used to describe the clinical features.

In 1949, Adolphe Franceschetti and David Klein described the same condition on their own observations as mandibulofacial dysostosis.

Treacher Collins syndrome (TCS), also known as Treacher Collins-Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones.

In 2012, Canadian researchers belonging to the FORGE (Finding of Rare disease GEnes) consortium identified new dominant mutations in SF3B4 as the cause of Nager syndrome, a rare type of mandibulofacial dysostosis with associated limb malformations.