{"orpha":448242,"name":"Autosomal recessive brachyolmia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Brachyolmia, Hobaek/Toledo type"],"definition":"Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-448242/","orphanet_url":"https://www.orpha.net/en/disease/detail/448242","names":{"fr":{"name":"Brachyolmie autosomique récessive","synonyms":["Brachyolmie type Hobaek/Toledo"],"definition":"Forme de brachyolmie (groupe de maladies squelettiques génétiques rares) caractérisée par une petite taille à type de tronc court avec platyspondylie et scoliose. Des opacités cornéennes et une calcification précoce du cartilage costal sont des composantes syndromiques rares. Une pubarche prématurée peut être observée."},"de":{"name":"Brachyolmie, autosomal-rezessive","synonyms":["Brachyolmie Typ Hobaek/Toledo"],"definition":"Die autosomal-rezessive Brachyolmie ist eine Unterform der Brachyolmie (s. diesen Begriff), einer Gruppe seltener genetisch bedingter Skeletterkrankungen, die durch kurzstämmigen Kleinwuchs mit Platyspondylie und Skoliose gekennzeichnet ist. Hornhauttrübungen und eine frühzeitige Verkalkung des Rippenknorpels sind seltene syndromale Komponenten. Eine vorzeitige Pubertät kann auftreten."},"es":{"name":"Braquiolmia autosómica recesiva","synonyms":["Braquiolmia tipo Hobaek/Toledo"],"definition":"Es una forma de braquiolmia, un grupo de trastornos esqueléticos poco frecuentes de origen genético caracterizados por talla baja de tronco corto acompañada de platispondilia y escoliosis. De forma excepcional, los afectados pueden presentar opacidades corneales y calcificación precoz del cartílago costal. En algunos casos, se observa pubertad precoz."},"it":{"name":"Brachiolmia autosomica recessiva","synonyms":["Brachiolmia autosomica recessiva, tipo Hobaek/Toledo"],"definition":"La brachiolmia recessiva è una forma di brachiolmia (si veda questo termine), un gruppo di malattie rare dello scheletro, di origine genetica, caratterizzate bassa statura, tronco corto, platispondilia e scoliosi. Raramente, i pazienti presentano opacità corneali e calcificazioni precoci delle cartilagini costali. Può manifestarsi pubarca precoce."},"nl":{"name":"Autosomaal recessieve brachyolmie","synonyms":["Brachyolmie, Hobaek/Toledo-type"],"definition":"Brachyolmie, recessief type, is een vorm van brachyolmie (zie deze term), een groep van zeldzame, genetische skeletstoornissen, die wordt gekarakteriseerd door kleine gestalte met korte romp en met platyspondylie en scoliose. Hoornvliestroebeling en vroegtijdige verkalking van costaal kraakbeen zijn zeldzame syndromale componenten. Premature pubarche kan voorkomen."},"pt":{"name":"Braquiolmia, forma recessiva"},"pl":{"name":"Brachyolmia, typ recesywny","synonyms":["Autosomalna recesywna brachyolmia, typ Hobaek/Toledo"]},"cs":{"name":"Brachyolmie, recesivní typ","synonyms":["Autozomálně recesivní brachyolmie, Hobaek/Toledo typ"]},"uk":{"name":"Аутосомно-рецесивна брахіолмія","synonyms":["Брахіолмія, тип Хобек/Толедо"],"definition":"Brachyolmia, recessive type is a form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur."},"zh":{"name":"常染色体隐性遗传血吸虫病","synonyms":["Hobaek/Toledo型血吸虫病"],"definition":"一种隐性类型的乳头瘤病（见本术语），这是一组罕见的遗传性骨骼疾病，其特征是矮小，扁椎骨和脊柱侧弯。罕见症状包括角膜混浊和肋软骨的过早钙化是。可发生青春期提前。"},"tr":{"name":"Otozomal resesif brakiyolmi","synonyms":["Brakiyolmi, Hobaek/Toledo tipi"]}},"xrefs":[{"source":"OMIM","code":"271530","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"271630","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q76.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"625421044"},{"source":"MONDO","code":"0018662","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4760908","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":93301,"name":"Brachyolmia type 1, Hobaek type","status":"inactive"},{"type":"Moved to","orpha":93303,"name":"Brachyolmia type 1, Toledo type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":1293,"name":"Brachyolmia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"PAPSS2","name":"3'-phosphoadenosine 5'-phosphosulfate synthase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22791835[PMID]","hgnc":"8604","ensembl":"ENSG00000198682","omim":"603005","loci":["10q23.2-q23.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"Dr Gen NISHIMURA[EXPERT]"}],"phenotypes":null}