In 1954, Jackson et al. coined the term “craniometaphyseal dysplasia” for a hereditary bone disease with metaphyseal widening of the tubular bones and bony overgrowth of the facial and skull bones (leonteasis ossea).
Genetics/Basic Defects
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Genetic heterogeneity (Beighton 1995)
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Autosomal dominant form [also called CMD, Jackson type (CMDJ)]:
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CMDJ locus mapped to 5p15.2-p14.1 within a region harboring the human homolog (ANKH) of the mouse progressive ankylosis (ank) gene
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Mutations in ANKH have been associated in craniometaphyseal dysplasia in some families (Nürnberg et al. 2001; Reichenberger et al. 2001)
- iii.
ANKH mutations that cause CMD most likely entail a loss of function (Kornak et al. 2010) or a loss of ANKH protein expression and activity in the plasma membrane as a result of aberrant intracellular protein trafficking (Zajac et al. 2010)
- i.
- b.
Autosomal dominant form cosegregating with chondrocalcinosis
- i....
- a.
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References
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(2012). Craniometaphyseal Dysplasia. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_59
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DOI: https://doi.org/10.1007/978-1-4614-1037-9_59
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