{"orpha":447974,"name":"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447974/","orphanet_url":"https://www.orpha.net/en/disease/detail/447974","names":{"fr":{"name":"Syndrome de malformation de Klippel-Feil-myopathie-dysmorphie faciale","definition":"Maladie génétique rare caractérisée par l'association de la malformation de Klippel-Feil (fusion de la colonne cervicale), de la myopathie, de l'hypotonie, d'une petite taille, d'une microcéphalie et d'une dysmorphie faciale (à savoir une implantation basse des oreilles, un nez bulbeux, un philtrum long, un palais haut et une implantation basse des cheveux à l'arrière de la tête). Des malformations cardiaques et squelettiques ont également été rapportées (notamment le pectus excavatum ou la clinodactylie)."},"de":{"name":"Klippel-Feil-Anomalie-Myopathie-Gesichtsdysmorphie-Syndrom","definition":"Eine seltene genetische Erkrankung, die durch die Assoziation von Klippel-Feil-Anomalie (Verschmelzung der Halswirbelsäule), Myopathie, Hypotonie, Kleinwuchs, Mikrozephalie und Gesichtsdysmorphien (u. a. tief angesetzte Ohren, Knollennase, langes Philtrum, hochgewölbter Gaumen und niedriger hinterer Haaransatz) gekennzeichnet ist. Es wurde auch über Herzanomalien und verschiedene Skelettanomalien (wie Pectus excavatum und Klinodaktylie) berichtet."},"es":{"name":"Síndrome de anomalía de Klippel-Feil-miopatía-dismorfia facial","definition":"Es una enfermedad de base genética poco frecuente caracterizada por la asociación de anomalía de Klippel-Feil (fusión de la columna cervical), miopatía, hipotonía, talla baja, microcefalia y dismorfia facial (que incluye orejas de baja implantación, nariz bulbosa, filtrum largo, paladar ojival y línea de implantación del cabello baja, entre otros). También se han descrito anomalías cardíacas y diversas anomalías esqueléticas (como pectus excavatum o clinodactilia)."},"it":{"name":"Sindrome anomalia di Klippel-Feil-miopatia-dismorfismi facciali","definition":"Si tratta di una malattia genetica rara, caratterizzata dall'anomalia di Klippel-Feil (fusione delle vertebre del tratto cervicale della colonna), miopatia, ipotonia, bassa statura, microcefalia e dismorfismi facciali (orecchie a basso impianto, naso globoso, filtro lungo, palato ogivale e impianto basso dei capelli sulla nuca). I pazienti possono presentare anche cardiopatie e anomalie scheletriche (pectus excavatum o clinodattilia)."},"nl":{"name":"Klippel-Feilanomalie - myopathie - faciale dysmorfie-syndroom","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door de associatie van anomalie van Klippel-Feil (fusie van cervicale wervelkolom), myopathie, hypotonie, kleine gestalte, microcefalie, en faciale dysmorfie (met onder meer laagstaande oren, knolvormige neus, lang filtrum, hoog gebogen verhemelte, en lage achterste haarlijn). Hartanomalieën en verschillende skeletanomalieën (zoals pectus excavatum of clinodactylie) werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de anomalia de Klippel-Feil-miopatia-dismorfia facial"},"pl":{"name":"Zespół anomalii Klippela i Feila, miopatii i dysmorfii twarzy"},"cs":{"name":"Syndrom zahrnující Klippelovu-Feilovu anomálii, myopatii a faciální dysmorfismus","synonyms":["Syndrom zahrnující Klippel-Feilovu anomálii, myopatii a faciální dysmorfismus"]},"uk":{"name":"Синдром аномалії Кліппеля-Фейля-міопатії-дисморфізму обличчя","definition":"A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported."},"zh":{"name":"克-佩氏综合征"},"tr":{"name":"Klippel-Feil anomalisi-miyopati-fasiyal dismorfizm sendromu"}},"xrefs":[{"source":"OMIM","code":"616549","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q76.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014689","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225285","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]},{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MYO18B","name":"myosin XVIIIB","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25748484[PMID]","hgnc":"18150","ensembl":"ENSG00000133454","omim":"607295","loci":["22q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25748484[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25748484[PMID]"}],"phenotypes":null}