Cleidocranial Dysplasia

Common Name(s)

Cleidocranial Dysplasia, Cleidocranial dysostosis

Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). Individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. Mutations in the RUNX2 gene cause most cases of cleidocranial dysplasia. This condition is inherited in an autosomal dominant pattern. In some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. Other cases result from new mutations in the RUNX2 gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cleidocranial Dysplasia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cleidocranial Dysplasia" returned 39 free, full-text research articles on human participants. First 3 results:

RUNX2 mutations in cleidocranial dysplasia.
 

Author(s): K-E Lee, F Seymen, J Ko, M Yildirim, E B Tuna, K Gencay, J-W Kim

Journal:

 

The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal dominant skeletal dysplasia that is characterized ...

Last Updated: 13 Nov 2013

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A 13-year-old Caucasian boy with cleidocranial dysplasia: a case report.
 

Author(s): Olga-Elpis Kolokitha, Ioulia Ioannidou

Journal:

 

Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder. The disorder is caused by heterozygosity of mutations in human RUNX2, which is present on the short arm of chromosome 6p21. The incidence of CCD is one per million births. CCD appears spontaneously ...

Last Updated: 23 Jan 2013

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A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia.
 

Author(s): C Y Fang, J J Xue, L Tan, C H Jiang, Q P Gao, D S Liang, L Q Wu

Journal:

 

We identified a disease-causing mutation of the RUNX2 gene in a four-generation Chinese family affected with cleidocranial dysplasia (CCD). For mutation analysis, the coding region of RUNX2 was sequenced with DNA from two patients and three unaffected family members. The RUNX2 mutation ...

Last Updated: 10 May 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cleidocranial Dysplasia" returned 3 free, full-text review articles on human participants. First 3 results:

Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience.
 

Author(s): Tina Roberts, Lawrence Stephen, Peter Beighton

Journal: Oral Surg Oral Med Oral Pathol Oral Radiol. 2013 Jan;115(1):46-55.

 

Cleidocranial dysplasia (CCD) is an uncommon but well-known genetic skeletal condition. Several hundred affected persons are members of a large extended family in the Cape Town Mixed Ancestry community of South Africa. The clinical manifestations are often innocuous, but hyperdontia ...

Last Updated: 11 Dec 2012

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Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency.
 

Author(s): E Soto, K Richani, L F Gonçalves, P Devers, J Espinoza, W Lee, M C Treadwell, R Romero

Journal: Ultrasound Obstet Gynecol. 2006 May;27(5):574-9.

 

A patient with a singleton pregnancy was referred for three-dimensional ultrasonography (3DUS) at 18 + 3 weeks for suspected hypomineralization of the skull bones and absence of the nasal bones. Three-dimensional rendered images of the fetal skull revealed widening of the coronal ...

Last Updated: 25 Apr 2006

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Cleidocranial dysplasia: clinical and molecular genetics.
 

Author(s): S Mundlos

Journal: J. Med. Genet.. 1999 Mar;36(3):177-82.

 

Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 ...

Last Updated: 11 Jun 1999

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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