10 Cleidocranial Dysplasia FAQs

By alexander

Reviewed: dr. vanta

Article Sources

Article Sources

• 1. 'Cranial Sutures: MedlinePlus Medical Encyclopedia.' MedlinePlus - Health Information from the National Library of Medicine, 4 May 2021, medlineplus.gov/ency/article/002320.htm
• 2. 'Cleidocranial Dysplasia.' Genetic and Rare Diseases Information Center, U.S. Department of Health & Human Services, 19 Aug. 2020, rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia
• 3. 'Cleidocranial Dysplasia: MedlinePlus Genetics.' MedlinePlus - Health Information from the National Library of Medicine, Genetics Home Reference, 18 Aug. 2020, medlineplus.gov/genetics/condition/cleidocranial-dysplasia/#causes

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Parents pass on the traits and characteristics to their children through genes. At times, there may be a mutation in the genes causing a medical disorder, also called a genetic disorder. Cleidocranial dysplasia is a rare genetic disorder also known as cleidocranial dysostosis, dento-osseous dysplasia and Maria-Sainton syndrome. It's inherited in an autosomal dominant pattern.

Cleidocranial dysplasia mainly affects teeth and bones, including the skull, face, spine, collarbones and legs. People living with cleidocranial dysplasia may have malformed, brittle or missing bones, such as the collarbone. Although it's a genetic disorder, cleidocranial dysplasia may present with a variety of symptoms and severity in families.

How Does Cleidocranial Dysplasia Affect the Skull and Face?

A person living with cleidocranial dysplasia may suffer from nonclosure of the spaces between the bones making up the skull, called fontanels. The spaces may also be wider than normal fontanelles. Fontanelles come together and completely close by the time a baby is approximately 18 months old but may not close until adulthood in patients with cleidocranial dysplasia.¹‘Cranial Sutures: MedlinePlus Medical Encyclopedia.’ MedlinePlus - Health Information from the National Library of Medicine, 4 May 2021, medlineplus.gov/ency/article/002320.htm

Other facial bone abnormalities might include an unusually large forehead, a broad face, wide-set eyes, an exaggerated chin and a small upper jaw. The lower jawbones sometimes fail to connect for people with cleidocranial dysplasia, and some patients may have a bulging skull cap.