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Ankylosing vertebral hyperostosis with tylosis

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(Redirected from Beardwell syndrome) Medical condition
Ankylosing vertebral hyperostosis with tylosis
SpecialtyMedical genetics

Ankylosing vertebral hyperostosis with tylosis is a rare autosomal dominant genetic disorder characterized by ossification of the paraspinal ligament, sclerosis of the sacroiliac joint, and punctate hyperkeratosis (affecting the soles and palms). Some people with the condition are actually asymptomatic, which means they're relatively unaffected by it, the people who do show symptoms of it usually only show chronic/recurring back pain ranging from mild to moderate and, occasionally, obesity. It has only been described in 8 members of a 2-generation Greek Cypriot family. It is a type of dysostosis.

References

  1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Ankylosing vertebral hyperostosis with tylosis". www.orpha.net. Retrieved 2022-09-29.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. "Ankylosing vertebral hyperostosis with tylosis - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-09-29.
  3. Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019), "Beardwell Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education, retrieved 2022-09-29
  4. Beardwell, A. (September 1969). "Familial ankylosing vertebral hyperostosis with tylosis". Annals of the Rheumatic Diseases. 28 (5): 518–523. doi:10.1136/ard.28.5.518. ISSN 0003-4967. PMC 1031239. PMID 5346342.
  5. "Entry - 106400 - ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS - OMIM". www.omim.org. Retrieved 2022-09-29.
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