{"orpha":93323,"name":"Isolated fibular hemimelia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital longitudinal deficiency of the fibula","Isolated fibular deficiency","Isolated fibular longitudinal meromelia"],"definition":"A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93323/","orphanet_url":"https://www.orpha.net/en/disease/detail/93323","names":{"fr":{"name":"Hémimélie fibulaire isolée","synonyms":["Déficit isolé congénital longitudinal de la fibula","Déficit isolé congénital longitudinal du péroné","Hémimélie du péroné isolée","Hémimélie péronière isolée","Méromélie longitudinale de la fibula isolée","Méromélie longitudinale du péroné isolée","Méromélie longitudinale fibulaire isolée","Méromélie longitudinale péronière isolée"],"definition":"Malformation congénitale rare des membres caractérisée par l'absence complète ou partielle du péroné, associée à une dysplasie et une hypoplasie du tibia et à une dysplasie, une hypoplasie ou une aplasie de certaines parties du pied."},"de":{"name":"Hemimelie, fibuläre isolierte","synonyms":["Fibuladefekt, isolierter","Isolierte angeborene longitudinale Fehlbildung des Wadenbeins","Isolierte fibuläre longitudinale Meromelie"],"definition":"Eine seltene angeborene Extremitätenfehlbildung, die durch vollständiges oder teilweises Fehlen des Wadenbeins in Kombination mit Dysplasie und Hypoplasie des Schienbeins und Dysplasie, Hypoplasie oder Aplasie von Teilen des Fußes gekennzeichnet ist."},"es":{"name":"Hemimelia aislada del peroné","synonyms":["Deficiencia aislada del peroné","Deficiencia longitudinal congénita aislada del peroné","Meromelia longitudinal aislada del peroné"],"definition":"Es una malformación congénita poco frecuente de las extremidadades caracterizada por la ausencia total o parcial del hueso del peroné acompañada de displasia e hipoplasia tibial y displasia, hipoplasia o aplasia de partes del pie."},"it":{"name":"Emimelia fibulare isolata","synonyms":["Deficit isolato del perone","Deficit longitudinale congenito isolato del perone","Meromelia longitudinale isolata del perone"],"definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata dall'agenesia completa o parziale del perone associata alla displasia e all'ipoplasia della tibia, e alla displasia, ipoplasia o aplasia di alcune parti del piede."},"nl":{"name":"Geïsoleerde hemimelie van fibula","synonyms":["Geïsoleerde congenitale longitudinale deficiëntie van fibula","Geïsoleerde fibulaire deficiëntie","Geïsoleerde fibulaire longitudinale meromelie","Geïsoleerde hemimelie van kuitbeen"],"definition":"Een zeldzame congenitale malformatie van ledemaat, gekarakteriseerd door volledige of gedeeltelijke afwezigheid van fibula, gecombineerd met dysplasie en hypoplasie van tibia en dysplasie, hypoplasie of aplasie van delen van voet."},"pt":{"name":"Hemimelia peronial isolada","synonyms":["Deficiência longitudinal do peróneo isolada congénita","Deficiência peronial isolada","Meromelia peronial longitudinal isolada"],"definition":"A hemimelia peroneal é uma deficiência longitudinal congénita dos membros caracterizada por ausência completa ou parcial do peroneo."},"pl":{"name":"Hemimelia strzałkowa","synonyms":["Podłużna meromelia strzałkowa","Wrodzone skrócenie podłużne kości strzałkowej"]},"cs":{"name":"Fibulární hemimelie","synonyms":["Vrozený longitudinální deficit fibuly","Fibulární longitudinální meromelie"]},"uk":{"name":"Ізольована фібулярна гемімелія","synonyms":["Ізольований вроджений поздовжній дефект малогомілкової кістки","Ізольована фібулярна недостатність","Ізольована фібулярна поздовжня меромелія"],"definition":"A rare congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot."},"zh":{"name":"腓侧半肢畸形","synonyms":["先天性腓骨纵向缺失"],"definition":"腓骨半肢畸形是一种先天性纵向肢体缺陷，其特征是腓骨完全或部分缺失。"},"tr":{"name":"Fibüler hemimeli","synonyms":["Fibular longitudinal meromeli","Fibulanın doğumsal longitudinal eksikliği"]}},"xrefs":[{"source":"ICD-10","code":"Q72.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB9A.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"915482054"},{"source":"MONDO","code":"0019672","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925049","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8659","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295081,"name":"OBSOLETE: Fibular hemimelia, unilateral","status":"inactive"},{"type":"Referred to","orpha":295083,"name":"OBSOLETE: Fibular 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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1033,"area":"Worldwide","status":"Validated","source":"20498623[PMID]_27909861[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1033,"area":"Worldwide","status":"Validated","source":"20498623[PMID]_27909861[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-18","source":"15754355[PMID]_15083119[PMID]_29744100[PMID]_30269159[PMID]_30875935[PMID]_27227952[PMID]","terms":[{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040069","label":"Abnormal lower limb bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006437","label":"Disproportionate prominence of the femoral medial condyle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005736","label":"Short tibia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003365","label":"Arthralgia of the hip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003184","label":"Decreased hip abduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030043","label":"Hip subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031058","label":"Impairment of activities of daily living","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006460","label":"Increased laxity of ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045086","label":"Knee joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005085","label":"Limited knee flexion/extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030772","label":"Proximal femoral focal deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010219","label":"Structural foot deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001772","label":"Talipes equinovalgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000593","label":"Abnormal anterior chamber morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002990","label":"Fibular aplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001849","label":"Foot oligodactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003274","label":"Hypoplastic acetabulae","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100656","label":"Thoracoabdominal wall defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null}]}}