{"orpha":1327,"name":"Camptodactyly syndrome, Guadalajara type 1","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1327/","orphanet_url":"https://www.orpha.net/en/disease/detail/1327","names":{"fr":{"name":"Camptodactylie de Guadalajara type 1","definition":"La camptodactylie de Guadalajara type 1 est un syndrome rare associant un retard de croissance, une dysmorphie faciale, une camptodactylie et des anomalies squelettiques."},"de":{"name":"Kamptodaktylie Guadalajara Typ 1"},"es":{"name":"Síndrome de camptodactilia de Guadalajara tipo 1","definition":"El síndrome de camptodactilia Guadalajara tipo 1 es un síndrome poco frecuente que consiste en retraso del crecimiento, dismorfia facial, camptodactilia y anomalías óseas."},"it":{"name":"Camptodattilia di Guadalajara, tipo 1"},"nl":{"name":"Camptodactyliesyndroom, Guadalajara-type 1","definition":"Een zeldzaam syndroom, gekenmerkt door groeiretardatie, faciale dysmorfie, camptodactylie, en skeletanomalieën."},"pt":{"name":"Síndrome de camptodactilia, Guadalajara tipo 1"},"pl":{"name":"Zespół kamptodaktylii Guadalajara typu 1"},"cs":{"name":"Syndrom s kamptodaktylií, guadalajarský typ 1"},"uk":{"name":"Синдром камптодактилії Гвадалахара, тип 1","definition":"Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies."},"zh":{"name":"先天性指屈曲综合征，瓜达拉哈拉1型"},"tr":{"name":"Kamptodaktili sendromu, Guadalajara tip 1"}},"xrefs":[{"source":"OMIM","code":"211910","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008898","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537970","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859359","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1067","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":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"7192193[PMID]_7681735[PMID]_8116673[PMID]_12002144[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7192193[PMID]_7681735[PMID]_8116673[PMID]_12002144[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006292","label":"Abnormality of dental eruption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009907","label":"Attached earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent 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