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Copyright V. Ventruto / A. Di Luccio Genus database 24190 ankylosing spondylitis Eponyms: Inheritance: ANS AS Bechterew syndrome Marie-Strumpell spondylitis autosomal dominant Semeiological Arthro-skeletal disorder. 2nd 3rd decades onset; chronic low back pain, stiffness followed by severe dorsolumbar spine limitation of motion, severe chest expansion limitation, HLA-B27 presence. General Synthesis: population uincidence: 1:1000. Patients with the disease and B27 positive: 95%; patients with the disease and B27 negative: 0.05%. General population frequency of B27 10:100. Risk of recurrence: offspring B27 positive of an affected parent: abour 10%; offspring B27 negative: less than 1%. Group Sub group Signs: JOINT DISORDERS joint, changes, not including laxity and contractures arthritis, joint phlogosis LABORATORY DATA biochemical markers HLA association HLA DR4 metabolic defect chromosomal assignment chromosome 6p localization gene, structural-functional anomalies ANS (AS) ankylosing spondylitis, gene chr.6p21.3 gene analysis-DNA analysis plasma proteins, anomalies immune and immune-complex disease OTHERS inheritance inheritance, autosomal dominant PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data SKELETAL DISORDERS bones, lesions, structural changes isolated thoracic/pelvic/vertebral anomalies spine, changes spine, rigidity Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: HLA SYSTEM HLA, class I ISOLATED SKELETAL ANOMALIES NOT INCLUDING OSTEOCHONDRODYSPLASIAS isolated thoracic/pelvic/vertebral anomalies METABOLIC DISORDERS immune and immune-complex diseases OTHER seronegative spondyloarthropathies Differential diagnosis: ankylosing spondylitis 11580 16140 2180 22750 28616 24280 Hallervorden-Spatz syndrome Melkersson-Rosenthal syndrome rheumatoid arthritis rickets, vitamin D-resistant I spine ligament ossification spondylolisthesis Page 1 of 2 Genus database Bibliography ankylosing spondylitis Copyright V. Ventruto / A. Di Luccio OMIM ID: 106300 Peter S.Harper: Practical Genetic Counselling. 6th Ed. 2004 pag. 221 Annuario Orphanet-Italia delle Malattie Rare, 2005 pag. 758 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.1558,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.18051809,2007 Page 2 of 2
