Ankylosing vertebral hyperostosis with tylosis
| Ankylosing vertebral hyperostosis with tylosis | |
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| Specialty | Medical 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).[1] 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.[2][3] It has only been described in 8 members of a 2-generation Greek Cypriot family.[4][5] It is a type of dysostosis.
References
[edit]- ^ 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) - ^ "Ankylosing vertebral hyperostosis with tylosis - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-09-29.
- ^ 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
- ^ 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.
- ^ "Entry - 106400 - ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS - OMIM". www.omim.org. Retrieved 2022-09-29.
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