{"orpha":2206,"name":"Ankylosing vertebral hyperostosis with tylosis","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2206/","orphanet_url":"https://www.orpha.net/en/disease/detail/2206","names":{"fr":{"name":"Hyperostose vertébrale ankylosante avec tylose","definition":"Dysostose rare avec atteinte vertébrale prédominante caractérisée par une ossification des ligaments paravertébraux (plus prononcée dans la région thoracique inférieure), une ostéophytose, une sclérose des articulations sacro-iliaques marginales et une hyperkératose ponctuée sur la plante des pieds et les paumes. Les patients peuvent être asymptomatiques ou présenter des douleurs dorsales légères à modérées. Aucun cas n'a été décrit dans la littérature depuis 1969."},"de":{"name":"Hyperostose, ankylosierende vertebrale mit Tylosis","synonyms":["Forestier-Syndrom"],"definition":"Eine seltene Dysostose mit vorwiegender Wirbelbeteiligung, die durch paraspinale Bandverknöcherungen (am stärksten ausgeprägt im unteren Brustbereich), Osteophytose, marginale Sklerose der Iliosakralgelenke und punktförmige Hyperkeratose an den Fußsohlen und Handflächen gekennzeichnet ist. Die Patienten können asymptomatisch sein oder leichte bis mäßige Rückenschmerzen haben. Seit 1969 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Hiperostosis vertebral anquilosante con tilosis","synonyms":["Enfermedad de Forestier"],"definition":"Es una disostosis poco frecuente con una afectación vertebral predominante caracterizada por osificación del ligamento paraespinal (más acentuada en la región torácica inferior), osteofitosis, esclerosis marginal de la articulación sacroilíaca e hiperqueratosis punteada en las plantas de los pies y las palmas de las manos. Los pacientes pueden estar asintomáticos o experimentar dolor de espalda de leve a moderado. No ha habido más casos descritos en la literatura desde 1969."},"it":{"name":"Iperostosi vertebrale anchilosante con tilosi","definition":"È una disostosi rara con prevalente interessamento delle vertebre, caratterizzata da ossificazione del legamento paraspinale (più marcata nella porzione inferiore del torace), osteofitosi, sclerosi marginale dell'articolazione sacroiliaca e ipercheratosi puntata della pianta dei piedi e del palmo delle mani. I pazienti possono essere asintomatici, oppure presentare dolore lieve-moderato alla schiena. Non sono stati descritti nuovi casi dopo il 1969."},"nl":{"name":"Ankyloserende vertebrale hyperostose met tylose","definition":"Een zeldzame dysostose met voornamelijk betrokkenheid van de wervels, gekarakteriseerd door ossificatie van paraspinale ligamenten (meest uitgesproken in de onderste thoracale regio), osteofytose, marginale sclerose van het sacro-iliacaal gewricht, en puntvormige hyperkeratose op de voetzolen en handpalmen. Patiënten kunnen asymptomatisch zijn of milde tot matige rugpijn vertonen. Sinds 1969 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Hiperostose vertebral anquilosante com tilose"},"pl":{"name":"Zesztywniająca hiperostoza kręgów z rogowcem dłoni i stóp"},"cs":{"name":"Vertebrální ankylozující hyperostóza s tylózou"},"uk":{"name":"Анкілозуючий гіперостоз хребців з тилозом","definition":"A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969."},"zh":{"name":"强直性椎体肥大伴胼胝形成"},"tr":{"name":"Tiloz ile görülen ankilozan vertebral hiperostoz"}},"xrefs":[{"source":"OMIM","code":"106400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M48.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.H","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"120916486"},{"source":"MONDO","code":"0007127","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020498","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"842","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"5346342[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5346342[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-27","source":null,"terms":[{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null}]}}