Encyclopedia of Molecular Mechanisms of Disease

2009 Edition
| Editors: Florian Lang

Van Buchem Disease and Sclerosteosis

  • Wendy Balemans
  • Wim Van Hul
Reference work entry
DOI: https://doi.org/10.1007/978-3-540-29676-8_3116

Synonyms

Autosomal recessive endosteal hyperostosis; Hyperostosis corticalis generalisata; Truswell-Hansen disease

Definition and Characteristics

Van Buchem disease and sclerosteosis are classified among the craniotubular hyperostosis. Radiographic examination shows a generalized, progressive overgrowth and sclerosis of the skeleton. Typical features are an impressive thickening and sclerosis of the mandible and both the roof and base of the skull, often resulting in facial distortion. Facial nerve palsy, hearing disturbances, visual loss and neurological pain, caused by encroachment of the cranial foramina by hyperostotic bone, are frequently observed clinical complications. The clinical phenotype of sclerosteosis is often more severe and variable expression of congenital hand malformations and raised intracranial pressure, sometimes leading to sudden death, is observed [1].

Prevalence

Both conditions are inherited in an autosomal recessive fashion with an equal sex distribution, and...

This is a preview of subscription content, log in to check access.

References

  1. 1.
    Beighton P, Barnard A, Hamersma H and Wouden A (1984) The syndromic status of sclerosteosis and van Buchem disease. Clin Genet 25:175–181PubMedGoogle Scholar
  2. 2.
    Balemans W, Van Hul W (2004) Identification of the disease-causing gene in sclerosteosis – discovery of a novel bone anabolic target? J Musculoskelet Neuronal Interact 4:139–142PubMedGoogle Scholar
  3. 3.
    Ott SM (2005) Sclerostin and Wnt signaling – the pathway to bone strength. J Clin Endocrinol Metab 90:6741–6743PubMedGoogle Scholar
  4. 4.
    Loots GG, Kneissel M, Keller H, Baptist M, Chang J, Collette NM, Ovcharenko D, Plajzer-Frick I, Rubin EM (2005) Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. Genome Res 15:928–935PubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Berlin Heidelberg 2009

Authors and Affiliations

  • Wendy Balemans
    • 1
  • Wim Van Hul
    • 1
  1. 1.Department of Medical GeneticsUniversity and University Hospital of AntwerpAntwerpBelgium