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Genetic and Rare Diseases Information Center (GARD)

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Cleidocranial dysplasia

Other Names for this Disease
  • CLCD
  • Cleidocranial dysostosis
  • Dysplasia cleidocranial
  • Marie-Sainton disease
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Your Question

My 25-year-old son has cleidocranial dysplasia. His condition is mild, but he has endured treatments for hearing loss and orthodontic conditions. We were told at the time of his diagnosis that his children would have a 50/50 chance of inheriting this condition. Is that still the case? Are there any treatments or therapies to prevent him from passing this on?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes cleidocranial dysplasia?

Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene.[1][2] This gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. When the gene is mutated, it decreases the total amount of functional RUNX2 protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes near RUNX2.[1]

In about one-third of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. The cause of the condition in these individuals is unknown.[1]

Last updated: 12/26/2012

How is cleidocranial dysplasia inherited?

Cleidocranial dysplasia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.[1][2]
Last updated: 12/26/2012

What are the chances that cleidocranial dysplasia will be passed on to the next generation?

Each child of an individual with cleidocranial dysplasia has a 50% chance of inheriting the mutation.[2]
Last updated: 12/26/2012

Is there any way to prevent cleidocranial dysplasia from being passed on to future generations?

Prenatal diagnosis for pregnancies at increased risk for cleidocranial dysplasia is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis (performed at approximately 15 to 18 weeks' gestation) or chorionic villus sampling (CVS) (performed at approximately ten to 12 weeks' gestation). The disease-causing allele of an affected family member must be identified before prenatal testing can be performed.[2]

Cleidocranial dysplasia can also be diagnosed by ultrasound examination as early as 14 weeks' gestation. The feature that most often suggests a diagnosis of cleidocranial dysplasia is abnormal clavicles, which are either short or partially or totally absent. Other less specific findings include a short, broad (brachycephalic) skull with undermineralization, frontal bossing, and generalized underdeveloped ossification (bone formation).[2]

Preimplantation genetic diagnosis (PGD), a procedure which can be used in conjunction with in vitro fertilization, may be available for families in which the disease-causing mutation has been identified.[2] Click here to access a list of laboratories that offer PGD.

Last updated: 12/26/2012