{"orpha":3238,"name":"Cardiospondylocarpofacial syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Forney syndrome","Forney-Robinson-Pascoe syndrome","Mitral regurgitation-deafness-skeletal anomalies syndrome","Mitral regurgitation-hearing loss-skeletal anomalies syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3238/","orphanet_url":"https://www.orpha.net/en/disease/detail/3238","names":{"fr":{"name":"Syndrome cardio-spondylo-carpo-facial","synonyms":["Syndrome d'anomalie de la valve mitrale-surdité-anomalie squelettique","Syndrome de Forney","Syndrome de Forney-Robinson-Pascoe"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique d'origine génétique rare caractérisé par un retard de croissance intra-utérin, une petite taille, des difficultés à s'alimenter et un retard de croissance staturo-pondérale, des anomalies cardiaques (défaut septal et/ou dysplasie valvulaire), une laxité articulaire, les premiers métacarpiens courts, une brachydactylie, une fusion des os du carpe et du tarse, une fusion des vertèbres cervicales, une malformation de l'oreille interne avec surdité de transmission bilatérale et une dysmorphie faciale (hypertélorisme, fentes palpébrales ascendantes, oreilles orientées vers l'arrière, narines antéversées et philtrum long). Parmi les manifestations variables figurent, entre autres, un reflux gastro-oesophagien et des anomalies de l'appareil génito-urinaire."},"de":{"name":"Kardio-spondylo-carpo-faziales Syndrom","synonyms":["Forney-Robinson-Pascoe-Syndrom","Forney-Syndrom","Mitralinsuffizienz - Schwerhörigkeit - Skelettfehlbildungen"],"definition":"Ein genetisch bedingtes Dysmorphie-Syndrom mit Wachstumsverzögerung, Kleinwuchs, Fütterungsschwierigkeiten und Gedeihstörung, Herzanomalien (Septumdefekte und/oder Klappendysplasie), Gelenkhypermobilität, kurzen Extremitäten, Brachydaktylie, Karpal- und Tarsalfusion, Halswirbelfusion, Fehlbildung des Innenohrs mit beidseitiger Schallleitungsschwerhörigkeit und Gesichtsdysmorphien (wie Hypertelorismus, aufsteigende Lidachsen, nach hinten gedrehte Ohren, antevertierte Nasenlöcher und langes Philtrum). Zu den weiteren variablen Manifestationen gehören unter anderem gastroösophagealer Reflux und genitourinäre Anomalien."},"es":{"name":"Síndrome cardio-espondilo-carpo-facial","synonyms":["Síndrome de Forney","Síndrome de Forney-Robinson-Pascoe","Síndrome de insuficiencia mitral-hipoacusia-anomalías esqueléticas","Síndrome de insuficiencia mitral-sordera-anomalías esqueléticas"],"definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, de origen genético y poco frecuente caracterizado por retraso del crecimiento, talla baja, dificultad para alimentarse, fallo de medro y anomalías cardíacas (defectos del tabique y/o displasia valvular), laxitud articular, acortamiento de las extremidades, braquidactilia, fusión carpiana, tarsal y de las vértebras cervicales, malformación del oído interno con hipoacusia conductiva bilateral y rasgos faciales dismórficos (como hipertelorismo, fisuras palpebrales ascendentes, orejas rotadas posteriormente, narinas antevertidas y filtrum largo). Otras manifestaciones variables son reflujo gastroesofágico y anomalías genitourinarias, entre otras."},"it":{"name":"Sindrome cardio-spondilo-carpo-facciale","synonyms":["Regurgito mitralico - sordità - anomalie scheletriche","Sindrome di Forney","Sindrome di Forney-Robinson-Pascoe"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo della crescita, bassa statura, difficoltà di alimentazione e ritardo dello sviluppo, cardiopatie (difetti del setto e/o displasia valvolare), lassità articolare, accorciamento degli arti, brachidattilia, fusione carpale e tarsale, fusione delle vertebre cervicali, malformazioni dell'orecchio interno con sordità di conduzione bilaterale e dismorfismi facciali (ipertelorismo, rime palpebrali oblique verso l'alto, orecchie ruotate posteriormente, narici anteverse e filtro lungo). I pazienti possono presentare anche reflusso gastroesofageo e anomalie genitourinarie."},"nl":{"name":"Cardiospondylocarpofaciaal syndroom","synonyms":["Mitralisklepregurgitatie - doofheid - skeletanomalieën-syndroom","Mitralisklepregurgitatie - gehoorverlies - skeletanomalieën-syndroom","Syndroom van Forney","Syndroom van Forney-Robinson-Pascoe"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door groeiretardatie, kleine gestalte, voedingsproblemen en niet-gedijen, hartanomalieën (septumdefecten en/of dysplasie van hartklep), gewrichtslaxiteit, korte ledematen, brachydactylie, fusie van carpalen en tarsalen, fusie van cervicale wervels, malformatie van binnenoor met bilateraal conductief gehoorverlies, en dysmorfe gelaatskenmerken (zoals hypertelorisme, opwaarts hellende ooglidspleten, naar achteren gedraaide oren, anteversie van de neusgaten, en lang filtrum). Bijkomende variabele manifestaties zijn onder meer gastro-oesofageale reflux en urogenitale anomalieën."},"pt":{"name":"Síndrome cardio-espondilo-carpo-facial","synonyms":["Síndrome Forney","Síndrome Forney-Robinson-Pascoe","Síndrome de regurgitação mitral-perda auditiva-anomalias ósseas","Síndrome de regurgitação mitral-surdez-anomalias ósseas"]},"pl":{"name":"Zespół sercowo-kręgowo-nadgarstkowo-twarzowy","synonyms":["Niedomykalność zastawki mitralnej - głuchota - wady szkieletu","Zespół Forney'a","Zespół Forney'a, Robinsona i Pascoe"]},"cs":{"name":"Kardiospondylokarpofaciální syndrom","synonyms":["Syndrom zahrnující mitrální regurgitaci, hluchotu a anomálie skeletu","Forneyův syndrom","Forneyův-Robinsonův-Pascoův syndrom","Forney-Robinson-Pascoův syndrom"]},"uk":{"name":"Кардіоспондилокарпофаціальний синдром","synonyms":["Синдром Форні","Синдром Форні-Робінсона-Паскоу","Синдром мітральної регургітації-глухоти-скелетних аномалій","Синдром мітральної регургітації-глухоти-скелетних аномалій"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others."},"zh":{"name":"心脏-脊柱-腕-面综合征","synonyms":["二尖瓣反流-听力丧失-骨骼异常综合征"]},"tr":{"name":"Kardiyospondilokarpofasiyal sendrom","synonyms":["Forney sendromu","Forney-Robinson-Pascoe sendromu","Mitral yetersizlik-sağırlık-iskelet anomalileri sendromu","Mitral yetersizlik-işitme kaybı-iskelet anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"157800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1935230135"},{"source":"MONDO","code":"0008005","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537269","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931461","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2362","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"MAP3K7","name":"mitogen-activated protein kinase kinase kinase 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27426734[PMID]","hgnc":"6859","ensembl":"ENSG00000135341","omim":"602614","loci":["6q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"5901343[PMID]_20186786[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5901343[PMID]_20186786[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-17","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006352","label":"Failure of eruption of permanent teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Frequent (79-30%)","criteria":null}]}}