{"orpha":2345,"name":"Isolated Klippel-Feil syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital cervical vertebral fusion","Congenital fused cervical segments","Klippel-Feil malformation","Klippel-Feil sequence"],"definition":"Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2345/","orphanet_url":"https://www.orpha.net/en/disease/detail/2345","names":{"fr":{"name":"Syndrome de Klippel-Feil isolé","synonyms":["Fusion congénitale des segments cervicaux","Fusion congénitale des vertèbres cervicales","Malformation de Klippel-Feil","Séquence de Klippel-Feil"],"definition":"Le syndrome de Klippel-Feil est caractérisé par un défaut de segmentation des somites cervicaux, résultant en une fusion congénitale des vertèbres cervicales."},"de":{"name":"Klippel-Feil-Syndrom, isoliertes","synonyms":["Halswirbelfusion, kongenitale","Klippel-Feil-Fehlbildung","Klippel-Feil-Sequenz","Wirbelkörperfusion"],"definition":"Das Klippel-Feil-Syndrom ist gekennzeichnet durch fehlerhafte Segmentierung der Halswirbelsäule mit angeborenen Fusionen von Halswirbeln."},"es":{"name":"Síndrome de Klippel-Feil aislado","synonyms":["Fusión congénita de los segmentos cervicales","Fusión vertebral cervical congénita","Malformación de Klippel-Feil","Secuencia de Klippel-Feil"],"definition":"El síndrome de Klippel-Feil se caracteriza por una mala segmentación de los segmentos cervicales, lo que provoca la fusión congénita de las vértebras cervicales."},"it":{"name":"Sindrome isolata di Klippel-Feil","synonyms":["Fusione congenita dei segmenti cervicali","Fusione congenita delle vertebre cervicali","Fusioni delle vertebre cervicali","Malformazione di Klippel-Feil","Sequenza di Klippel-Feil"]},"nl":{"name":"Geïsoleerd syndroom van Klippel-Feil","synonyms":["Congenitale cervicale vertebrale fusie","Congenitale gefuseerde cervicale segmenten","Klippel-Feil-sequentie","Malformatie van Klippel-Feil"],"definition":"Syndroom van Klippel-Feil wordt gekenmerkt door onjuiste segmentatie van cervicale segmenten, wat resulteert in congenitaal gefuseerde cervicale wervels."},"pt":{"name":"Síndrome Klippel-Feil isolado","synonyms":["Fusão vertebral cervical"]},"pl":{"name":"Izolowany zespół Klippela i Feila","synonyms":["Malformacja Klippela i Feila","Sekwencja Klippela i Feila","Wrodzone zrosty kręgów szyjnych","Wrodzony zrost w odcinku szyjnym"]},"cs":{"name":"Izolovaný Klippelův-Feilův syndrom","synonyms":["Klippelova-Feilova malformace","Klippelova-Feilova sekvence","Vrozené splynutí krčních obratlů","Vrozené spojení krčních segmentů","Izolovaný Klippel-Feilův syndrom","Klippel-Feilova malformace","Klippel-Feilova sekvence"]},"uk":{"name":"Ізольований синдром Кліппеля-Фейля","synonyms":["Вроджене зрощення шийних хребців","Вроджені зрощені сегменти шийки матки","Вада розвитку Кліппеля-Фейля","Послідовність Кліппеля-Фейля"],"definition":"Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae."},"zh":{"name":"孤立型Klippel-Feil综合征","synonyms":["先天性颈椎融合术"]},"tr":{"name":"İzole Klippel-Feil sendromu","synonyms":["Klippel-Feil dizisi","Klippel-Feil malformasyonu","Doğumsal kaynaşmış servikal segmentler","Doğumsal servikal vertebral füzyon"]}},"xrefs":[{"source":"OMIM","code":"118100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"214300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613702","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q76.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB73.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2139186992"},{"source":"MONDO","code":"0016520","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007714","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022738","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10280","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10023464","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"GDF3","name":"growth differentiation factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19864492[PMID]","hgnc":"4218","ensembl":"ENSG00000184344","omim":"606522","loci":["12p13.31"]},{"symbol":"GDF6","name":"growth differentiation factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18425797[PMID]","hgnc":"4221","ensembl":"ENSG00000156466","omim":"601147","loci":["8q22.1"]},{"symbol":"MEOX1","name":"mesenchyme homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23290072[PMID]","hgnc":"7013","ensembl":"ENSG00000005102","omim":"600147","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-05","source":"29630209[PMID]_31577545[PMID]","terms":[{"hpo":"HP:0005640","label":"Abnormal vertebral segmentation and fusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004602","label":"Cervical C2/C3 vertebral fusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005986","label":"Limitation of neck motion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005988","label":"Congenital muscular torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034980","label":"Synkinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}