{"orpha":376,"name":"Gordon syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Camptodactyly-cleft palate-clubfoot syndrome","Distal arthrogryposis type 3","Distal arthrogryposis type IIA"],"definition":"Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-376/","orphanet_url":"https://www.orpha.net/en/disease/detail/376","names":{"fr":{"name":"Syndrome de Gordon","synonyms":["Arthrogrypose distale type 3","Arthrogrypose distale type IIA","Syndrome de camptodactylie-pied bot-fente palatine"],"definition":"Le syndrome de Gordon, aussi connu sous le nom d'arthrogrypose distale de type 3 est un syndrome malformatif congénital multiple extrêmement rare caractérisé par des contractures congénitales des mains et des pieds, une camptodactylie de sévérité variable, des pieds bots et, moins fréquemment, une fente palatine. Il n'y a pas de déficit intellectuel. Dans certains cas, des anomalies additionnelles peuvent être présentes, comme une petite taille, une cyphoscoliose, un ptosis, une micrognatie et une cryptorchidie. Le syndrome de Gordon, le syndrome de Marden-Walker et l'arthrogrypose avec limitation du champ oculomoteur présentent des similitudes au niveau clinique et génétique, et pourraient représenter des expressions variables de la même maladie."},"de":{"name":"Gordon-Syndrom","synonyms":["Arthrogrypose, distale, Typ 3","Arthrogrypose, distale, Typ IIA","Kamptodaktylie-Gaumenspalte-Klumpfuß-Syndrom"]},"es":{"name":"Síndrome de Gordon","synonyms":["Artrogriposis distal tipo 3","Artrogriposis distal tipo IIA","Síndrome de campodactilia-paladar hendido-pie zambo"],"definition":"El síndrome de Gordon, también conocido como artrogriposis distal tipo 3, es una malformación congénita múltiple extremadamente infrecuente caracterizada por contracturas congénitas de manos y pies con grados variables de gravedad de campodactilia, pie zambo y, con menor frecuencia, paladar hendido. La inteligencia es normal pero en algunos casos, pueden presentarse anomalías adicionales tales como baja estatura, cifoescoliosis, ptosis, micrognatia, y criptorquidismo. El síndrome de Gordon, el síndrome de Marden-Walker y la artrogriposis con limitaciones óculo-motoras y anomalías electro-retinianas se solapan clínica y genéticamente, por lo que podrían representar expresiones variables de la misma condición."},"it":{"name":"Sindrome di Gordon","synonyms":["Artrogriposi distale, tipo 2A","Artrogriposi distale, tipo 3","Camptodattilia - palatoschisi - piedi torti"],"definition":"La sindrome di Gordon, anche nota come artrogriposi distale tipo 3, è una sindrome molto rara da anomalie congenite multiple, caratterizzata da contratture congenite delle mani e dei piedi, camptodattilia di grado e gravità variabili, piedi equini e, raramente, palatoschisi. L'intelligenza è normale; in alcuni casi sono state osservate altre anomalie, come la bassa statura, la cifoscoliosi, la ptosi, la micrognatia e il criptorchidismo. La sindrome di Gordon è dovuta alle mutazioni del gene PIEZO2 sul cromosoma 18p11. Mutazioni alleliche causano le artrogriposi distali 3 e 5, l'artrogriposi distale con alterazioni della sensibilità propriocettiva e tattile e probabilmente la sindrome di Marden-Walker, tutte a trasmissione autosomica dominante."},"nl":{"name":"Syndroom van Gordon","synonyms":["Distale artrogrypose type 3","Distale artrogrypose type IIA","camptodactylie - gespleten verhemelte - klompvoet-syndroom"],"definition":"Syndroom van Gordon, ook gekend als distale artrogrypose type 3, is een uiterst zeldzaam syndroom met multipele congenitale malformaties dat gekarakteriseerd wordt door congenitale hand- en voetcontracturen met variabele gradaties van camptodactylie, klompvoet en, minder frequent, gespleten verhemelte. Intelligentie is normaal, maar in sommige gevallen kunnen bijkomende afwijkingen aanwezig zijn, waaronder kleine gestalte, kyfoscoliose, ptose, micrognathie, en cryptorchisme. Syndroom van Gordon, syndroom van Marden-Walker en artrogrypose met oculomotorische beperkingen en elektroretinale anomalieën overlappen klinisch en genetisch, en vertegenwoordigen mogelijk variabele expressies van dezelfde conditie."},"pt":{"name":"Síndrome Gordon","synonyms":["Artrogripose distal tipo 3","Artrogripose distal tipo IIA","Síndrome de camptodactilia-fenda do palato-pés botos"]},"pl":{"name":"Zespół Gordona","synonyms":["Artrogrypoza dystalna typu 3","Artrogrypoza dystalna typu IIA","Kamptodaktylia - rozszczep podniebienia - stopa końsko-szpotawa"]},"cs":{"name":"Gordonův syndrom","synonyms":["Distální artrogrypóza, typ 3","Distální artrogryóza, typ IIA","Syndrom zahrnující kamptodaktylii, rozštěp rtu a pes equinovarus"]},"uk":{"name":"Синдром Гордона","synonyms":["Синдром камптодактилії-розщілинипіднебіння-клишоногості","Дистальний артрогрипоз, тип 3","Дистальний артрогрипоз IIA типу"],"definition":"Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition."},"zh":{"name":"Gordon综合征","synonyms":["先天性指屈曲-腭裂-先天性畸形足综合征"]},"tr":{"name":"Gordon sendromu","synonyms":["Distal artrogripozis tip 3","Distal artrogripozis tip IIA","Kamptodaktili-yarık damak-clubfoot sendromu"]}},"xrefs":[{"source":"OMIM","code":"114300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1444357813"},{"source":"MONDO","code":"0007252","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537288","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220666","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2553","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97120,"name":"Distal arthrogryposis","classifications":[147,156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"PIEZO2","name":"piezo type mechanosensitive ion channel component 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24726473[PMID]","hgnc":"26270","ensembl":"ENSG00000154864","omim":"613629","loci":["18p11.22-p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}