Craniodiaphyseal dysplasia

Definition:

Craniodiaphyseal dysplasia (CDD) is an autosomal dominant sclerotic bone disorder characterized by distinctive facial dysmorphism-prominent zygomatic bones, broadening of the center of the face, hypertelorism, a small upturned tip of the nose, prominent jaw, and open mouth. Mutations preventing the secretion of SOST have been identified as being responsible for CDD.

References:

[1]. Su Jin Kim, et al. Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Hum Genet. 2011 May;129(5):497-502. [Content Brief]

[2]. Tadeusz Bieganski, et al. A boy with severe craniodiaphyseal dysplasia and apparently normal mother. Am J Med Genet A. 2007 Oct 15;143A(20):2435-43. [Content Brief]

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