[4] Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome.

[7] Cleidocranial dysostosis is a general skeletal condition[8] so named from the collarbone (cleido-) and cranium deformities which people with it often have.

[18] The main mechanism is thought to involve haploinsufficiency caused by mutations in CBFA1 (also known as Runx2), a gene located on the short arm of chromosome 6 (6p21), which encodes a transcription factor required for the differentiation of stem cells into osteoblasts.

[10] This results in delayed ossification of midline structures of the body and ensuing defects in membranous and endochondral bone formation.

[20] Diagnosis of CCD spectrum disorder is established in an individual with typical clinical and radiographic findings and/or by the identification of a heterozygous pathogenic variant in RUNX2 (CBFA1).

Ron Short, a roofing contractor who was born without collarbones because of cleidocranial dysostosis and thus could collapse his shoulders to work in cramped corners, arrived at the site and offered to go down the shaft.

Actor Gaten Matarazzo was born with cleidocranial dysplasia, which is incorporated into his character Dustin Henderson's storyline on Stranger Things.

[26] Sibling actress-singers Milly[27] and Abby Shapiro were born with cleidocranial dysplasia, a trait they share with their mother.