{"orpha":2015,"name":"Cleft palate-short stature-vertebral anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mathieu-De Broca-Bony syndrome"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2015/","orphanet_url":"https://www.orpha.net/en/disease/detail/2015","names":{"fr":{"name":"Syndrome de fente palatine-petite taille-anomalies vertébrales","synonyms":["Syndrome de Mathieu-De Broca-Bony","Syndrome de fente palatine-petite taille-anomalies des vertèbres"],"definition":"Syndrome génétique rare d'anomalies congénitales multiples caractérisé par l'association d'une fente palatine, d'une dysmorphie faciale (aspect asymétrique, épicanthus, nez court, narines antéversées, oreilles d'implantation basse et orientées vers l'arrière, lèvre supérieure fine et micrognathie), d'une petite taille, d'un cou court, d'anomalies vertébrales et d'une déficience intellectuelle. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Gaumenspalte-Kleinwuchs-Wirbelanomalien-Syndrom","synonyms":["Mathieu-de-Broca-Bony-Syndrom"],"definition":"Ein genetisch bedingtes Syndrom mit multiplen angeborenen Anomalien, das durch die Kombination von Gaumenspalte, auffälligem Gesicht (asymmetrisches Aussehen, innere Epikanthusfalten, kurze Nase, antevertierte Nasenlöcher, tief anliegende und nach hinten ausgerichtete Ohren, dünne Oberlippe und Mikrogenie), Kleinwuchs, kurzem Hals, Wirbelanomalien und Intelligenzminderung gekennzeichnet ist. Seit 1993 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Síndrome de paladar hendido-talla baja-anomalías de las vértebras","synonyms":["Síndrome de Mathieu-de Broca-Bony"],"definition":"Es un síndrome poco frecuente de anomalías congénitas múltiples de origen genético caracterizado por la asociación de paladar hendido, facies peculiar (apariencia asimétrica, pliegues epicánticos internos, nariz corta, fosas nasales antevertidas, orejas de implantación baja y rotadas posteriormente, labio superior delgado y micrognatia), talla baja, cuello corto, anomalías vertebrales y discapacidad intelectual. No ha habido más descripciones en la literatura desde 1993."},"it":{"name":"Palatoschisi - bassa statura - anomalie delle vertebre","synonyms":["Sindrome di Mathieu-De Broca-Bony"]},"nl":{"name":"Gespleten gehemelte - kleine gestalte - vertebrale anomalieën-syndroom","synonyms":["Syndroom van Mathieu-De Broca-Bony"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gekenmerkt door associatie van gespleten gehemelte, ongewoon aangezicht (asymmetrisch uiterlijk, binnenste epicanthusplooien, korte neus, anteversie van neusgaten, laagstaande en naar achteren gerichte oren, dunne bovenlip, en micrognathie), kleine gestalte, korte hals, vertebrale anomalieën en intellectuele achterstand. Sinds 1993 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de fenda palatina-baixa estatura-anomalias vertebrais","synonyms":["Síndrome Mathieu-de Broca-Bony"]},"pl":{"name":"Rozszczep podniebienia - niski wzrost - anomalie kręgów","synonyms":["Zespół Mathieu, De Broca i Bony"],"definition":"Rzadki, genetycznie uwarunkowany zespół mnogich wad wrodzonych, charakteryzujący się współwystępowaniem rozszczepu podniebienia, osobliwego wyglądu twarzy (asymetria, zmarszczki nakątne wewnętrzne, krótki nos, odwrócone nozdrza, nisko osadzone i zrotowane do tyłu uszy, cienka górna warga i mikrognacja), niskiego wzrostu, krótkiej szyi, wad kręgosłupa i niepełnosprawności intelektualnej. Od 1993 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující rozštěp patra, malý vzrůst a anomálie obratlů","synonyms":["Mathieuův-De Brocův-Bonyův syndrom","Mathieu-De Broca-Bonyův syndrom"]},"uk":{"name":"Синдром розщілини піднебіння - низькорослості-аномалії хребта","synonyms":["Синдром Матьє-Де-Брока-Боні"],"definition":"A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993."},"zh":{"name":"腭裂-身材矮小-椎骨畸形综合征","synonyms":["Mathieu-De Broca-Bony 综合征"]},"tr":{"name":"Yarık damak-kısa boy-vertebral anomaliler sendromu","synonyms":["Mathieu-De Broca-Bony sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016065","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304704","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1392","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8110419[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8110419[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-19","source":"8110419[PMID]","terms":[{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null}]}}