Hyperostosis corticalis generalisata

Common Name(s)

Hyperostosis corticalis generalisata, Hyperphosphatasemia tarda

Van Buchem disease is an autosomal recessive bone dysplasia characterized by a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet, resulting in increased cortical bone density. The clinical consequences of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurologic pain, and very rarely, blindness resulting from optic atrophy. Bone anomalies appear in the first decade of life and progress with age (summary by {14:Wergedal et al., 2003}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperostosis corticalis generalisata" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Hyperostosis corticalis generalisata" returned 1 free, full-text research articles on human participants. First 3 results:

Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
 

Author(s): W Van Hul, W Balemans, E Van Hul, F G Dikkers, H Obee, R J Stokroos, P Hildering, F Vanhoenacker, G Van Camp, P J Willems

Journal: Am. J. Hum. Genet.. 1998 Feb;62(2):391-9.

 

Van Buchem disease (hyperostosis corticalis generalisata; OMIM 239100 [http://www3.ncbi.nlm.nih. gov:80/htbin-post/Omim/dispmim?239100]) is an autosomal recessive disorder characterized by hyperostosis of the skull, mandible, clavicles, ribs, and diaphyseal cortices of the long bones. ...

Last Updated: 6 Apr 1998

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