{"orpha":2019,"name":"Femur-fibula-ulna complex","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FFU complex","Femur-fibula-ulna dysostosis","Femur-fibula-ulna syndrome"],"definition":"A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2019/","orphanet_url":"https://www.orpha.net/en/disease/detail/2019","names":{"fr":{"name":"Complexe fémoro-péronéo-cubital","synonyms":["Complexe FFU","Dysostose fémoro-péronéo-cubitale","Syndrome fémoro-péronéo-cubital"],"definition":"Syndrome rare d'anomalies congénitales des membres caractérisé par une association très variable d'anomalies congénitales du fémur, du péroné et/ou de l'ulna, qui peuvent s'accompagner d'anomalies du côté ulnaire/fibulaire des doigts et des orteils. Les anomalies des membres sont asymétriques, les membres supérieurs étant plus souvent touchés que les membres inférieurs, et le côté droit du corps étant plus souvent touché que le côté gauche. Les anomalies des membres supérieurs comprennent une amélie, une hypoplasie de l'humérus, une synostose huméro-radiale et une malformation de l'ulna et du radius de l'ulna. Les anomalies des membres inférieurs comprennent l'absence de la partie proximale du fémur et l'absence du péroné. Le squelette axial, les organes internes et les fonctions intellectuelles sont généralement normaux."},"de":{"name":"Femur-Fibula-Ulna-Komplex","synonyms":["FFU-Komplex","Femur-Fibula-Ulna-Dysostose","Femur-Fibula-Ulna-Syndrom"],"definition":"Ein kongenitale syndromale Extremitätenfehlbildung, die durch eine sehr variable Kombination von angeborenen Anomalien des Oberschenkels, des Wadenbeins und/oder der Elle gekennzeichnet ist, die zusammen mit Anomalien der Finger/Zehen an der ulnaren/fibulären Seite auftreten können. Die Gliedmaßendefekte sind asymmetrisch, wobei die oberen Gliedmaßen häufiger betroffen sind als die unteren und die rechte Körperseite häufiger als die linke. Zu den Anomalien der oberen Gliedmaßen gehören Amelie, Hypoplasie des Humerus, Humero-Radial-Synostose und Fehlbildungen der Ulna und der Ulnarisstrahlen. Zu den Anomalien der unteren Gliedmaßen gehören das Fehlen des proximalen Teils des Oberschenkelknochens und das Fehlen des Wadenbeins. Das axiale Skelett, die inneren Organe und die intellektuellen Funktionen sind in der Regel normal."},"es":{"name":"Complejo fémur-peroné-cúbito","synonyms":["Complejo FFU","Complejo fémur-fíbula-ulna","Disostosis fémur-peroné-cúbito","Síndrome fémur-fíbula-ulna","Síndrome fémur-peroné-cúbito"],"definition":"Es un síndrome poco frecuente de malformación congénita de las extremidades caracterizado por una combinación altamente variable de anomalías congénitas del fémur, del peroné y/o del cúbito, que pueden aparecer junto con anomalías de los dedos de las manos o de los pies en el lado cubital/fibular. Los defectos de las extremidades son asimétricos, afectando más a menudo a las extremidades superiores que a las inferiores, y con mayor frecuencia al lado derecho del cuerpo que al izquierdo. Las anomalías del miembro superior incluyen amelia, hipoplasia del húmero, sinostosis húmero-radial y malformación del cúbito y de los radios cubitales. Las anomalías del miembro inferior incluyen la ausencia de la parte proximal del fémur y la ausencia del peroné. El esqueleto axial, los órganos internos y la capacidad intelectual suelen ser normales."},"it":{"name":"Complesso femore-fibula-ulna","synonyms":["Complesso FFU","Disostosi femore-fibula-ulna","Sindrome femore-fibula-ulna"],"definition":"Il complesso femore-fibula-ulna (FFU) è un difetto congenito non letale ad eziologia sconosciuta, più comune nei maschi che nelle femmine. E' caratterizzato dall'associazione variabile tra difetti del femore, del perone, e/o dell'ulna, con evidente asimmetria, compresa l'agenesia del tratto prossimale del femore, l'agenesia del perone e malformazioni del lato ulnare degli arti superiori. Lo scheletro assiale, gli organi interni e le funzioni cognitive di solito sono normali."},"nl":{"name":"Femur-fibula-ulna-complex","synonyms":["Dysostose van femur-fibula-ulna","FFU-complex","Femur-fibula-ulna-syndroom"],"definition":"Een zeldzaam congenitaal syndroom van malformatie van ledemaat, gekarakteriseerd door een zeer variabele combinatie van congenitale anomalieën van femur, fibula, en/of ulna, die kunnen verschijnen in combinatie met anomalieën van vingers/tenen aan de ulnaire/fibulaire zijde. Ledemaatdefecten zijn asymmetrisch, waarbij bovenste ledematen vaker aangetast zijn dan onderste ledematen, en de rechterzijde van het lichaam vaker getroffen wordt dan de linkerzijde. Afwijkingen van bovenste ledematen zijn onder meer amelie, hypoplasie van humerus, humero-radiale synostose, en malformatie van ulna en ulnaire stralen. Afwijkingen van onderste ledematen zijn onder meer afwezigheid van het proximale deel van femur en afwezigheid van fibula. Axiaal skelet, inwendige organen, en intellectuele functie zijn meestal normaal."},"pt":{"name":"Complexo fémur-fíbula-ulna","synonyms":["Complexo FFU","Disostose fémur-fíbula-ulna","Síndrome fémur-fíbula-ulna"]},"pl":{"name":"Kompleks udowo-strzałkowo-łokciowy","synonyms":["PFFD","Kompleks FFU","Zespół udowo - strzałkowo - łokciowy","Dyzostoza udowo - strzałkowo - łokciowa"]},"cs":{"name":"Komplex femur-fibula-ulna","synonyms":["FFU komplex","Dysostóza femur-fibula-ulna","Syndrom femur-fibula-ulna","Fokální femorální deficit"]},"uk":{"name":"Стегново-гомілково-ліктьовий комплекс","synonyms":["Дизостоз стегнової та малогомілкової кісток","Синдром стегнової-великогомілкової кістки","Комплекс FFU"],"definition":"A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal."},"zh":{"name":"股骨腓骨尺骨复合体","synonyms":["股骨腓骨尺骨发育障碍"]},"tr":{"name":"Femur-fibula-ulna kompleksi","synonyms":["PFFD","FFU kompleksi","Femur-fibula-ulna sendromu","Femur-fibula-ulna dizostoz"]}},"xrefs":[{"source":"OMIM","code":"228200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"353892894"},{"source":"MONDO","code":"0009221","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537918","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856790","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2286","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068448","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294957,"name":"Dysostosis with combined reduction defects of upper and lower limbs","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-16","source":"8500790[PMID]","terms":[{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003041","label":"Humeroradial synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009812","label":"Amelia involving the upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009828","label":"Peromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}