{"orpha":93322,"name":"Isolated tibial hemimelia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital absence of tibia","Isolated congenital aplasia and dysplasia of the tibia with intact fibula","Isolated congenital longitudinal deficiency of the tibia","Isolated tibial longitudinal meromelia"],"definition":"A rare congenital limb formation characterized by partial or complete absence of the tibia with a relatively intact fibula.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93322/","orphanet_url":"https://www.orpha.net/en/disease/detail/93322","names":{"fr":{"name":"Hémimélie tibiale isolée","synonyms":["Absence isolée congénitale de tibia","Aplasie et dysplasie isolée du tibia avec péroné intact","Déficit isolé congénital longitudinal du tibia","Méromélie tibiale longitudinale isolée"],"definition":"Maladie congénitale rare caractérisée par l'absence partielle ou complète du tibia associée à un péroné relativement normal."},"de":{"name":"Tibia-Hemimelie, isolierte","synonyms":["Isolierte kongenitale Aplasie und Dysplasie der Tibia mit intakter Fibula","Isolierte tibiale longitudinale Meromelie","Isoliertes angeborenes Fehlen des Schienbeines","Tibiafehlbildung, isolierte kongenitale longitudinale"],"definition":"Eine seltene angeborene Extremitätenfehlbildung, die durch ein teilweises oder vollständiges Fehlen des Schienbeins mit einem relativ intakten Wadenbein gekennzeichnet ist."},"es":{"name":"Hemimelia tibial aislada","synonyms":["Aplasia congénita aislada y displasia de la tibia con peroné intacto","Ausencia congénita aislada de la tibia","Deficiencia longitudinal congénita aislada de la tibia","Meromelia longitudinal tibial aislada"],"definition":"Es una malformación congénita poco frecuente de las extremidades caracterizada por la ausencia total o parcial de la tibia con un peroné relativamente intacto."},"it":{"name":"Emimelia tibiale Isolata","synonyms":["Aplasia e displasia congenita isolata della tibia con perone intatto","Assenza della tibia congenita isolata","Deficit longitudinale congenito isolato della tibia","Meromelia tibiale longitudinale isolata"],"definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata dall'agenesia parziale o completa della tibia con perone relativamente intatto."},"nl":{"name":"Geïsoleerde hemimelie van tibia","synonyms":["Geïsoleerde congenitale afwezigheid van tibia","Geïsoleerde congenitale aplasie en dysplasie van tibia met intacte fibula","Geïsoleerde congenitale longitudinale deficiëntie van tibia","Geïsoleerde hemimelie van scheenbeen","Geïsoleerde tibiale longitudinale meromelie"],"definition":"Een zeldzame congenitale malformatie van ledemaat, gekarakteriseerd door partiële of complete afwezigheid van tibia met relatief intact fibula."},"pt":{"name":"Hemimelia tibial isolada","synonyms":["Aplasia e displasia da tíbia com fíbula intacta isolada congénita","Ausência de tíbia isolada congénita","Deficiência longitudinal da tíbia isolada congénita","Meromelia tibial longitudinal isolada"],"definition":"A hemimelia tibial é uma anomalia congénita rara caracterizada por deficiência da tíbia com fíbula relativamente intacta."},"pl":{"name":"Izolowana hemimelia strzałkowa","synonyms":["Brak kości piszczelowej","Wrodzona aplazja i dysplazja kości piszczelowej z prawidłową kością strzałkową","Wrodzone skrócenie kości piszczelowej"]},"cs":{"name":"Tibiální hemimelie","synonyms":["Vrozená absence tibie","Vrozená aplázie a dysplázie tibie s intaktní fibulou","Vrozený longitudinální deficit tibie","Tibiální longitudinální meromelie"]},"uk":{"name":"Ізольована гемімелія великогомілкової кістки","synonyms":["Ізольована вроджена відсутність великогомілкової кістки","Ізольована вроджена аплазія та дисплазія великогомілкової кістки з інтактною малогомілковою кісткою","Ізольована вроджена поздовжня вада великогомілкової кістки","Ізольована великогомілкова поздовжня меромелія"],"definition":"A rare congenital limb formation characterized by partial or complete absence of the tibia with a relatively intact fibula."},"zh":{"name":"胫侧半肢畸形","synonyms":["先天性胫骨发育不全和发育不良伴腓骨完整"],"definition":"胫骨半肢畸形是一种罕见的先天性异常，其特征是胫骨缺损，腓骨相对完整。"},"tr":{"name":"Tibial hemimeli","synonyms":["Tibianın doğumsal yokluğu","Tibial longitudinal meromeli","Tibianın doğumsal longitudinal eksikliği","Sağlam fibulalı tibianın doğumsal aplazisi ve displazisi"]}},"xrefs":[{"source":"OMIM","code":"275220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q72.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB9A.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1111258427"},{"source":"MONDO","code":"0010144","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535563","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925046","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8707","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295077,"name":"OBSOLETE: Tibial hemimelia, unilateral","status":"inactive"},{"type":"Referred to","orpha":295079,"name":"OBSOLETE: Tibial hemimelia, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2130,"name":"Non-syndromic hemimelia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GLI3","name":"GLI family zinc finger 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26791356[PMID]","hgnc":"4319","ensembl":"ENSG00000106571","omim":"165240","loci":["7p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"16224672[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-16","source":"26791356[PMID]_31078790[PMID]_27277586[PMID]_27909860[PMID]","terms":[{"hpo":"HP:0009556","label":"Absent tibia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004987","label":"Mesomelic leg shortening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012386","label":"Absent hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003974","label":"Absent radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010037","label":"Aplasia of the 2nd metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010043","label":"Aplasia of the 4th metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010554","label":"Cutaneous finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001849","label":"Foot oligodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006460","label":"Increased laxity of ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030032","label":"Partial absence of foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005892","label":"Proximal tibial and fibular fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004059","label":"Radial club hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006426","label":"Rudimentary to absent tibiae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005736","label":"Short tibia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Very rare (<4-1%)","criteria":null}]}}