{"orpha":2511,"name":"Microbrachycephaly-ptosis-cleft lip syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Richieri Costa-Guion Almeida-Ramos syndrome"],"definition":"Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2511/","orphanet_url":"https://www.orpha.net/en/disease/detail/2511","names":{"fr":{"name":"Syndrome de microbrachycéphalie-ptosis-fente labiale","synonyms":["Syndrome de Richieri Costa-Guion Almeida-Ramos"],"definition":"Le syndrome de microbrachycéphalie-ptosis-fente labiale est caractérisé par l'association d'un déficit intellectuel, d'une microbrachycéphalie, d'un hypotélorisme, d'un ptosis palpébral, d'un visage long et fin, d'une fente labiale, et d'anomalies des vertèbres lombaires, sacrées et du bassin. Il a été décrit chez deux soeurs brésiliennes. Le mode de transmission est vraisemblablement autosomique récessif."},"de":{"name":"Mikrobrachyzephalie-Ptosis-Lippenspalte-Syndrom","synonyms":["Richieri-Costa-Guion-Almeida Ramos-Syndrom"],"definition":"Dieses Syndrom ist durch die Kombination von intellektuellem Defizit, Mikrobrachyzephalie, Hypotelorismus, Augenlid-Ptosis, einem schmalen/langen Gesicht, Lippen-Kiefer-Gaumenspalte und Anomalien der Lendenwirbel, des Kreuzbeins und des Beckens gekennzeichnet. Es wurde bei zwei brasilianischen Schwestern beschrieben. Die Vererbung scheint autosomal-rezessiv zu sein."},"es":{"name":"Síndrome de microbraquicefalia-ptosis-fisura labial","synonyms":["Síndrome de Richieri Costa-Guion Almeida-Ramos"],"definition":"Es un síndrome caracterizado por la asociación de discapacidad intelectual, microbraquicefalia, hipotelorismo, ptosis palpebral, cara delgada y alargada, labio leporino y anomalías de las vértebras lumbares, del sacro y de la pelvis. Se ha descrito en dos hermanas oriundas de Brasil. La transmisión parece ser autosómica recesiva."},"it":{"name":"Microbrachicefalia - ptosi - schisi labiale","synonyms":["Sindrome di Richieri Costa-Guion Almeida-Ramos"]},"nl":{"name":"Microbrachycefalie - ptose - gespleten lip-syndroom","synonyms":["Syndroom van Richieri Costa-Guion Almeida-Ramos"],"definition":"Een syndroom, gekenmerkt door de associatie van intellectuele achterstand, microbrachycefalie, hypotelorisme, ptosis van ooglid, dun/lang aangezicht, gespleten lip, en anomalieën van lumbale wervels, heiligbeen en bekken. Microbrachycefalie - ptosis - gespleten lip-syndroom werd beschreven bij twee Braziliaanse zussen. Overerving lijkt autosomaal recessief te gebeuren."},"pt":{"name":"Síndrome de microbraquicefalia-ptose-fenda labial","synonyms":["Síndrome Richieri-Costa-Guion-Almeida"]},"pl":{"name":"Mikrobrachycefalia - ptoza - rozszczep wargi","synonyms":["Zespół Richieri Costa, Guion Almeida i Ramosa"]},"cs":{"name":"Syndrom zahrnující mikrobrachycefalii, ptózu a rozštěp rtu","synonyms":["Richieri Costův-Guion Almeidaové-Ramosův syndrom","Richieri Costa-Guion Almeida-Ramosův syndrom"]},"uk":{"name":"Синдром мікробрахіцефалії-птозу-розщілини губи","synonyms":["Синдром Річчієрі Коста-Гійона Альмейда-Рамоса"],"definition":"Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive."},"zh":{"name":"短小头畸形-上睑下垂-唇裂综合征","synonyms":["Richieri Costa-Guion Almeida-Ramos 综合征"]},"tr":{"name":"Mikrobrakisefali-pitozis-yarık dudak sendromu","synonyms":["Richieri Costa-Guion Almeida-Ramos sendromu"]}},"xrefs":[{"source":"OMIM","code":"268850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518461","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3596","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]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1605250[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1605250[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-29","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010668","label":"Abnormal zygomatic bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000598","label":"Abnormality of the ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003172","label":"Abnormality of the pubic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008818","label":"Large iliac wings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009721","label":"Shagreen patch","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100333","label":"Unilateral cleft lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null}]}}