{"orpha":1326,"name":"Camptodactyly syndrome, Guadalajara type 2","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1326/","orphanet_url":"https://www.orpha.net/en/disease/detail/1326","names":{"fr":{"name":"Camptodactylie de Guadalajara type 2","definition":"La camptodactylie de Guadalajara type 2 est une anomalie congénitale multiple extrêmement rare caractérisée par un retard de croissance intra-utérine distinct, une dysplasie squelettique avec des malformations multiples dont une camptodactylie affectant tous les doigts, un hallux valgus bilatéral, des orteils 2, 4 et 5 courts, une rotule hypoplasique, une microcéphalie, des oreilles implantées basses, un cou court, des corps vertébraux cuboïdes, un pectus excavatum, une luxation de la hanche, et une hypoplasie de la région pubienne et des organes génitaux. Le syndrome de camptodactylie, Guadalajara type 2 a été décrit chez deux soeurs et est très probablement transmis de manière autosomique récessive. Aucun autre cas n'a été rapporté dans la littérature depuis 1985."},"de":{"name":"Kamptodaktylie Guadalajara Typ 2","definition":"Das Kamptodaktylie-Syndrom Typ Guadalajara 2 ist ein extrem seltenes Syndrom mit multiplen Fehlbildungen. Charakteristisch sind: Ausgeprägte intrauterine Wachstumsretardierung, Skelettdysplasie mit multiplen Fehlbildungen (Kamptodaktylie aller Finger, beidseitiger Hallux valgus, verkürzte Zehen II, IV und V, hypoplastische Patella, Mikrozephalie, tiefsitzende Ohren, kurzer Hals, würfelformige Wirbelkörper, Trichterbrust, Hüftluxation, hypoplastische Schamregion und Genitalien. Das Kamptodaktylie-Syndrom Typ Guadalajara 2 wurde bisher nur bei zwei Schwestern beschrieben und wird sehr wahrscheinlich autosomal-rezessiv vererbt. Weitere Fälle sind seit 1985 nicht bekannt geworden."},"es":{"name":"Síndrome de camptodactilia de Guadalajara tipo 2","definition":"El síndrome de camptodactilia de Guadalajara tipo 2 es un síndrome de anomalía congénita múltiple extremadamente raro caracterizado por un distintivo retraso en el crecimiento intrauterino, displasia esquelética con malformaciones múltiples, incluyendo camptodactilia de todos los dedos, hallux valgus bilateral, dedos de los pies segundo, cuarto y quinto cortos, rótula hipoplásica, microcefalia, orejas de implantación baja, cuello corto, cuerpos vertebrales con forma de paralelepípedo, pectus excavatum, dislocación de la cadera y región púbica y genitales hipoplásicos. El síndrome de camptodactilia de Guadalajara tipo 2 se ha descrito en dos hermanas y es muy probable que se transmita de forma autosómica recesiva. No ha habido descripciones posteriores en la literatura desde 1985."},"it":{"name":"Camptodattilia di Guadalajara, tipo 2","definition":"La sindrome da camptodattilia di Guadalajara tipo 2 è una sindrome da anomalie congenite multiple caratterizzata da un caratteristico ritardo della crescita prenatale, displasia scheletrica con malformazioni multiple, che comprendono la camptodattilia di tutte le dita, l'alluce valgo bilaterale, l'accorciamento delle dita dei piedi II, IV e V, l'ipoplasia della rotula, la microcefalia, le orecchie a basso impianto, il collo corto, i corpi vertebrali cuboidi, il pectus excavatum, la dislocazione dell'anca, e l'ipoplasia della regione pubica e dei genitali. Questa sindrome è stata descritta in due sorelle ed è trasmessa molto probabilmente con modalità autosomica recessiva. Gli ultimi casi pubblicati risalgono al 1985."},"nl":{"name":"Camptodactyliesyndroom, Guadalajara-type 2","definition":"Camptodactyliesyndroom, Guadalajara type 2, is een uiterst zeldzaam syndroom van meervoudige aangeboren misvorming, gekenmerkt door opvallende intra-uteriene groeivertraging, skeletdysplasie met meerdere misvormingen, waaronder camptodactylie van alle vingers, bilaterale hallux valgus, korte tweede, vierde en vijfde tenen, hypoplastische knieschijf, microcefalie, laag ingeplante oren, korte nek, kubusvormige wervellichamen, pectus excavatum, dislocatie van de heup en hypoplastische schaamstreek en genitaliën. Camptodactyliesyndroom, Guadalajara type 2, werd beschreven bij twee zussen en wordt waarschijnlijk op een autosomaal recessieve manier overgeërfd. Er zijn geen verdere beschrijvingen in de literatuur sinds 1985."},"pt":{"name":"Síndrome de camptodactilia, Guadalajara tipo 2"},"pl":{"name":"Zespół kamptodaktylii Guadalajara typu 2"},"cs":{"name":"Syndrom s kamptodaktylií, guadalajarský typ 2"},"uk":{"name":"Синдром камптодактилії Гвадалахара, тип 2","definition":"Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985."},"zh":{"name":"先天性手指屈曲综合征，瓜达拉哈拉2型"},"tr":{"name":"Kamptodaktili sendromu, Guadalajara tip 2"}},"xrefs":[{"source":"OMIM","code":"211920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008899","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537971","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931680","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1068","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4040823[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4040823[PMID]"}],"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:0004634","label":"Cuboid-shaped vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000066","label":"Labial hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001885","label":"Short 2nd toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005643","label":"Short 3rd toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011917","label":"Short 5th toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null}]}}