{"orpha":1540,"name":"Jackson-Weiss syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome","JWS"],"definition":"Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1540/","orphanet_url":"https://www.orpha.net/en/disease/detail/1540","names":{"fr":{"name":"Syndrome de Jackson-Weiss","synonyms":["JWS","Syndrome de craniosynostose-hypoplasie du milieu du visage-malformation des pieds"],"definition":"Maladie génétique rare caractérisée par des malformations du pied (fusion des os du tarse et du métatarse, orteils larges et courts avec un hallux varus) et, chez certains patients, par une craniosynostose accompagnée d'une dysmorphie faciale. Aucune anomalie des mains n'est rapportée chez les patients atteints de la maladie."},"de":{"name":"Jackson-Weiss-Syndrom","synonyms":["JWS","Kraniosynostose - Mittelgesichtshypoplasie - Fußanomalien"],"definition":"Das Jackson-Weiss-Syndrom (JWS) ist eine seltene genetische Störung, die durch Fehlbildungen der Füße (Fusionen der Fußwurzelknochen und Mittelfußknochen; kurze, breite, nach medial abgewinkelte Großzehen) und bei einigen Patienten durch Kraniosynostose mit Gesichtsanomalien gekennzeichnet ist. Die Hände der betroffenen Patienten sind normal."},"es":{"name":"Síndrome de Jackson-Weiss","definition":"Es un trastorno genético poco frecuente caracterizado por malformaciones en el pie (fusiones tarsianas y metatarsianas; primeros dedos de los pies cortos, anchos y desviados medialmente) y, en algunos afectados, craneosinostosis con anomalías faciales. Las manos de los afectados presentan un fenotipo normal."},"it":{"name":"Sindrome di Jackson-Weiss","synonyms":["Craniosinostosi - ipoplasia della parte media del viso - anomalie dei piedi","JWS"],"definition":"La sindrome di Jackson-Weiss (JWS) è una malattia genetica rara, caratterizzata da malformazioni dei piedi (fusioni del tarso e del metatarso; alluci corti e larghi deviati medialmente) e, in alcuni pazienti, craniosinostosi associata a dismorfismi facciali. Le mani sono normali."},"nl":{"name":"Syndroom van Jackson-Weiss","synonyms":["Craniosynostose - hypoplasie van middengezicht - voetanomalieën-syndroom","JWS"],"definition":"Syndroom van Jackson-Weiss (JWS) is een zeldzame, genetische stoornis die gekarakteriseerd wordt door voetmisvormingen (tarsale en metatarsale fusies; korte, brede en mediaal afwijkende grote tenen) en bij sommige patiënten craniosynostose met gelaatsafwijkingen. De handen van getroffen patiënten zijn normaal."},"pt":{"name":"Síndrome Jackson-Weiss","synonyms":["Craniossinostose-hipoplasia do terço médio da face-anomalias dos pés","JWS"]},"pl":{"name":"Zespół Jacksona i Weissa","synonyms":["JWS","Kraniosynostoza - hipoplazja środkowej części twarzy - nieprawidłowości stóp"]},"cs":{"name":"Jacksonův-Weissův syndrom","synonyms":["JWS","Syndrom zahrnující kraniosynostózu, hypoplázii střední části obličeje a abnormality chodidla","Jackson-Weissův syndrom"]},"uk":{"name":"Синдром Джексона-Вейсса","synonyms":["Синдром краніосиностозу - гіпоплазії середнього відділу обличчя - аномалії стоп","JWS"],"definition":"Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients."},"zh":{"name":"Jackson-Weiss综合征","synonyms":["颅缝早闭-面中部发育不良-足畸形综合征"]},"tr":{"name":"Jackson-Weiss sendromu","synonyms":["JWS","Kraniyosinostoz-orta fasiyal hipoplazisi-ayak anormallikleri sendromu"]}},"xrefs":[{"source":"OMIM","code":"123150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007400","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795998","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6796","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR2","name":"fibroblast growth factor receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301628[PMID]_21438135[PMID]","hgnc":"3689","ensembl":"ENSG00000066468","omim":"176943","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001783","label":"Broad metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001841","label":"Preaxial foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null}]}}