- Cleidocranial dysostosis
- Dysplasia cleidocranial
- Marie-Sainton disease
Your QuestionMy 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?
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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.
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).
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. Click here to access a list of laboratories that offer PGD.
- Cleidocranial dysplasia. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition=cleidocranialdysplasia. Accessed 12/26/2012.
- Mendoza-Londono R, Lee B. Cleidocranial dysplasia. GeneReviews. June 25, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1513/. Accessed 12/26/2012.