{"orpha":2104,"name":"Dysmorphism-pectus carinatum-joint laxity syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Guízar Vázquez-Sánchez-Manzano syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterised by joint laxity, pectus carinatum and facial dysmorphism (including mild frontal bossing, lateral displacement of the inner canthi, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). There have been no further descriptions in the literature since 1980.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2104/","orphanet_url":"https://www.orpha.net/en/disease/detail/2104","names":{"fr":{"name":"Syndrome de dysmorphie-pectus carinatum-laxité ligamentaire","synonyms":["Syndrome de Guízar Vázquez-Sánchez-Manzano"],"definition":"Syndrome de dysmorphie-pectus carinatum-laxité ligamentaire se caractérise par une hyperlaxité ligamentaire, un pectus carinatum et une dysmorphie faciale (front modérément bombé, une racine du nez basse, une hypoplasie malaire, un nez en forme de bec, des joues potelées, un philtrum aplati et des lèvres supérieures arquées). Il a été décrit chez deux enfants d'une même famille. Le mode de transmission de ce syndrome n'est pas connu."},"de":{"name":"Dysmorphien-Pectus carinatum-schlaffe Gelenke-Syndrom","synonyms":["Guízar Vázquez-Sánchez-Manzano-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch Gelenkhypermobilität, Pectus carinatum und Gesichtsdysmorphie (einschließlich leichter Balkonstirn, seitlicher Verlagerung der inneren Augenwinkel, Hakennase mit niedriger Nasenwurzel, Malarhypoplasie, pausbäckigen Wangen, auffälligem Philtrum und gewölbter Oberlippe) gekennzeichnet ist. Seit 1980 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de dismorfia-pectus carinatum-laxitud articular","synonyms":["Síndrome de Guízar Vázquez-Sánchez-Manzano"],"definition":"Es un síndrome caracterizado por laxitud articular, <i>pectus carinatum</i> y dismorfia facial (protuberancia frontal leve, nariz aguileña con puente nasal bajo, hipoplasia malar, mejillas llenas, filtrum prominente y labios superiores arqueados). Se ha descrito en dos hermanos. Se desconoce el modo de transmisión."},"it":{"name":"Dismorfismi - pectus carenatum - lassità articolare","synonyms":["Sindrome di Guízar Vázquez-Sánchez-Manzano"]},"nl":{"name":"Dysmorfie - pectus carinatum - gewrichtslaxiteit-syndroom","synonyms":["Syndroom van Guízar Vázquez-Sánchez-Manzano"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door gewrichtslaxiteit, pectus carinatum (kippenborst) en faciale dysmorfie (met onder meer mild boller voorhoofd, laterale dislocatie van binnenste ooghoeken, snavelvormige neus met een lage neusbrug, hypoplasie van jukbeen, bolle wangen, opvallend filtrum en gebogen bovenlip). Sinds 1980 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de dismorfia-pectus carinatum-hipermobilidade articular","synonyms":["Síndrome Guizar-Vasquez-Sanchez-Manzano"]},"pl":{"name":"Dysmorfia- klatka piersiowa kurza -luźność stawów","synonyms":["Zespół Guizar Vazqueza, Sancheza i Manzano"]},"cs":{"name":"Syndrom zahrnující dysmorfismus, pectus carinatum a zvýšenou kloubní laxicitu","synonyms":["Guízar Vázquezův-Sánchezův-Manzanův syndrom","Guízar Vázquez-Sánchez-Manzanův syndrom"]},"uk":{"name":"Синдром дисморфізму-pectus carinatum-слабкості суглобів","synonyms":["Синдром Гісара Васкеса-Санчеса-Мансано"],"definition":"Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown."},"zh":{"name":"外貌畸形-鸡胸-关节松弛综合征","synonyms":["Guízar Vázquez-Sánchez-Manzano综合征"]},"tr":{"name":"Dismorfizm-pektus karinatum-eklem laksitesi sendromu","synonyms":["Guízar Vázquez-Sánchez-Manzano sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016219","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518558","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":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7438507[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7438507[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null}]}}