Cleidocranial dysostosis

Cleidocranial dysostosis is caused by an abnormal gene. It is passed down through families as an autosomal dominant trait. That means you only need to get the abnormal gene from one parent in order for you to inherit the disease.

Cleidocranial dysostosis is a congenital condition, which means it is present from before birth. The condition affects girls and boys equally.

The health care provider will take your family history. The provider will do a physical examination and may do series of x-rays to check for:

• Undergrowth of the collarbone
• Undergrowth of the shoulder blade
• Failure of the area in the front of the pelvis bone to close

There is no specific treatment for it and management depends on each person's symptoms. Most people with the disease need:

• Regular dental care
• Head gear to protect skull bones until they close
• Ear tubes for frequent ear infections
• Surgery to correct any bone abnormalities

More information and support for people with cleidocranial dysostosis and their families can be found at:

• Little People of America -- www.lpaonline.org/about-lpa
• FACES: The National Craniofacial Association -- www.faces-cranio.org/
• Children's Craniofacial Association -- ccakids.org/

In most cases, the bone symptoms cause few problems. Appropriate dental care is important.

Complications include dental problems and shoulder dislocations.

Contact your provider if you have a:

• Family history of cleidocranial dysostosis and are planning to have a child.
• Child with similar symptoms.

Genetic counseling is appropriate if a person with a family or personal history of cleidocranial dysostosis is planning to have children. The disease may be diagnosed during pregnancy.

Cleidocranial dysplasia; Dento-osseous dysplasia; Marie-Sainton syndrome; CLCD; Dysplasia cleidocranial; Osteodental dysplasia

Hecht JT, Horton WA, Rodriguez-Buritica D. Disorders involving transcription factors. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 718.

Jones KL, Jones MC, del Campo M. Osteochondrodysplasia with osteopetrosis. In: Jones KL, Jones MC, del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022: 558-569.

Lissauer T, Carroll W. Musculoskeletal disorders. In: Lissauer T, Carroll W, eds. Illustrated Textbook of Paediatrics. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 28.

National Center for Advancing Translational Sciences website. Genetic and Rare Diseases Information Center. Cleidocranial dysplasia. rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia. Updated January 2024. Accessed February 22, 2024.

National Institute of Health website. Genetics Home Reference. Cleidocranial dysplasia. ghr.nlm.nih.gov/condition/cleidocranial-dysplasia#sourcesforpage. Updated August 1, 2017. Accessed March 8, 2024.

Updated by: Charles I. Schwartz, MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.