Cleidocranial dysplasia

Definition:

Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ossification. Mutations in RUNX2, which is involved in osteoblast differentiation, are the causes of the disease.

References:

[1]. Claus E Ott, et al. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat. 2010 Aug;31(8):E1587-93. [Content Brief]

[2]. Qiping Zheng, et al. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005 Aug;77(2):305-12. [Content Brief]

[3]. R S Ramesar, et al. Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. J Med Genet. 1996 Jun;33(6):511-4. [Content Brief]

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