{"orpha":2854,"name":"Fuhrmann syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome","Fuhrmann-Rieger-de Sousa syndrome"],"definition":"A rare syndrome with limb reduction defects characterized by severe femoral bowing, aplasia/hypoplasia of the fibula and ulna. Patients may present with poly-, oligo-, clino- and syndactyly. Absence/coalescence of tarsal bones, absence of metatarsals, hypoplasia/aplasia of toes, fingers and fingernails, hypoplasia of pelvis, congenital hip dislocation, short stature and amenorrhea have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2854/","orphanet_url":"https://www.orpha.net/en/disease/detail/2854","names":{"fr":{"name":"Syndrome de Furhmann","synonyms":["Syndrome d'hypoplasie ou aplasie du péroné-incurvation du fémur-oligodactylie","Syndrome de Fuhrmann-Rieger-de Sousa"],"definition":"Syndrome rare associé à des malformations réductionnelles des membres, caractérisé par une incurvation sévère du fémur, une aplasie ou une hypoplasie du péroné et de l'ulna. Les patients peuvent présenter une poly-, oligo-, clino- et syndactylie. Une absence ou une fusion des os du tarse, une absence des métatarses, une hypoplasie ou une aplasie des orteils, des doigts et des ongles, une hypoplasie du bassin, une luxation congénitale de la hanche, une petite taille et une aménorrhée ont également été rapportées."},"de":{"name":"Fuhrmann-Syndrom","synonyms":["Fibula-Hypoplasie - gekrümmter Femur - Oligodaktylie","Fuhrman-Rieger-de-Sousa-Syndrom"],"definition":"Hauptsächliche Charakteristika diese Syndroms sind gekrümmte Femora, Aplasie oder Hypoplasie der Fibulae und Poly-, Oligo- und Syndaktylie."},"es":{"name":"Síndrome de Fuhrmann","definition":"Es un síndrome poco frecuente con defectos de reducción de las extremidades caracterizado por una grave incurvación femoral y por aplasia/hipoplasia del peroné y del cúbito. Los pacientes pueden presentar poli-, oligo-, clino- y sindactilia. También se han descrito ausencia/coalescencia de los huesos del tarso, ausencia de metatarsianos, hipoplasia/aplasia de los dedos de los pies, de las manos y de las uñas, hipoplasia pélvica, luxación congénita de cadera, talla baja y amenorrea."},"it":{"name":"Sindrome di Fuhrmann","synonyms":["Ipoplasia o aplasia fibulare - incurvamento del femore - oligodattilia","Sindrome di Fuhrmann-Rieger-de Sousa"]},"nl":{"name":"Syndroom van Fuhrmann","synonyms":["Hypoplasie of aplasie van fibula - kromstand van femur - oligodactylie-syndroom","Syndroom van Fuhrmann-Rieger-de Sousa"],"definition":"Een zeldzaam syndroom met lengtedefect van ledemaat, gekenmerkt door ernstige kromstand van femur, en aplasie/hypoplasie van fibula en ulna. Patiënten kunnen zich presenteren met poly-, oligo-, clino- en syndactylie. Afwezigheid/vergroeiing van voetwortelbeentjes, afwezigheid van middenvoetsbeentjes, hypoplasie/aplasie van tenen, vingers en vingernagels, hypoplasie van bekken, congenitale heupluxatie, kleine gestalte en amenorroe werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome Fuhrmann","synonyms":["Síndrome Fuhrmann-Rieger-de Sousa","Síndrome de hipoplasia do perónio ou aplasia-encurvamento da fíbula-oligodactilia"]},"pl":{"name":"Zespół Fuhrmanna","synonyms":["Hipoplazja lub aplazja kości strzałkowej - łukowata kość udowa - oligodaktylia","Zespół Fuhrmanna, Riegera i de Sousa"]},"cs":{"name":"Fuhrmannův syndrom","synonyms":["Syndrom zahrnující fibulární hypoplázii nebo aplázii, ohnutí stehenní kosti a oligodaktylii","Fuhrmann-Riegerové-de Sousaův syndrom","Fuhrmann-Rieger-de Sousaův syndrom"]},"uk":{"name":"Синдром Фурмана","synonyms":["Синдром гіпоплазії або аплазії малогомілкової кістки - викривлення стегна-олігодактилії","Синдром Фурмана-Рігера-де-Суса"],"definition":"Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly."},"zh":{"name":"Fuhrmann综合征","synonyms":["腓骨发育不全-股骨侧弓-少指(趾)畸形综合征"]},"tr":{"name":"Fuhrmann sendromu","synonyms":["Fuhrmann-Rieger-de Sousa sendromu","Fibüler hipoplazi veya aplazi-femoral eğilme-oligodaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"228930","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2028077140"},{"source":"MONDO","code":"0009232","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538189","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856728","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2410","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"WNT7A","name":"Wnt family member 7A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23922166[PMID]_23266637[PMID]","hgnc":"12786","ensembl":"ENSG00000154764","omim":"601570","loci":["3p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"16826533[PMID]_12868468[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12868468[PMID]_16826533[PMID]"}],"phenotypes":null}