{"orpha":352577,"name":"Bainbridge-Ropers syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"],"definition":"A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352577/","orphanet_url":"https://www.orpha.net/en/disease/detail/352577","names":{"fr":{"name":"Syndrome de Bainbridge-Ropers","synonyms":["Syndrome de troubles sévères de l'alimentation-retard staturo-pondéral-microcéphalie par déficit en ASXL3"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique de présentation phénotypique variable, généralement caractérisée par une microcéphalie, de grandes difficultés à s'alimenter, un retard de croissance, un retard global de développement qui entraîne souvent des troubles du langage/l'absence totale de la parole, une déficience intellectuelle modérée à sévère et une hypotonie. Les caractéristiques craniofaciales incluent un front proéminent, de fins sourcils très arqués, un hypertélorisme, des fentes palpébrales inclinées vers le bas, un nez long et tubulaire avec une large pointe nasale et un pont nasal proéminent, une large bouche et une lèvre inférieure complètement éversée. Une laxité articulaire et une déviation ulnaire des poignets sont aussi fréquemment observées."},"de":{"name":"Bainbridge-Ropers-Syndrom","synonyms":["Schwere Fütterprobleme mit Gedeihstörungen und Mikrozephalie durch ASXL3-Mangel"],"definition":"Eine genetisch bedingte syndromale Form der Intelligenzminderung mit einer variablen phänotypischen Ausprägung, die typischerweise durch Mikrozephalie, schlechte Nahrungsaufnahme, Gedeihstörungen, eine schwere globale Entwicklungsverzögerung, die häufig zu fehlender/schlechter Sprache führt, eine mäßige bis schwere Intelligenzminderung und Hypotonie gekennzeichnet ist. Zu den charakteristischen kraniofazialen Merkmalen gehören eine prominente Stirn, hochgewölbte, dünne Augenbrauen, Hypertelorismus, schräg abwärts verlaufende Lidspalten, eine lange, röhrenförmige Nase mit breiter Spitze und prominentem Nasenrücken sowie ein breiter Mund mit voller, evertierter Unterlippe. Gelenkhypermobilität und Ulnardeviation der Handgelenke werden ebenfalls häufig beobachtet."},"es":{"name":"Síndrome de Bainbridge-Ropers","synonyms":["Síndrome de dificultades graves en la alimentación-fallo de medro-microcefalia por deficiencia de ASXL3"],"definition":"Es un trastorno sindrómico de discapacidad intelectual, poco frecuente y de origen genético, con una presentación fenotípica variable. Está caracterizado por microcefalia, dificultades graves de alimentación, fallo de medro, grave retraso del desarrollo global, que con frecuencia se traduce en ausencia o deficiencia del habla, discapacidad intelectual de moderada a grave e hipotonía. Los rasgos craneofaciales distintivos son frente prominente, cejas altas y finas, hipertelorismo, fisuras palpebrales descendentes, nariz larga y tubular con punta ancha y puente nasal prominente y boca ancha con labio inferior grueso y evertido. También se suele observar laxitud articular y desviación cubital de las muñecas."},"it":{"name":"Sindrome di Bainbridge-Roppers","synonyms":["Sindrome da gravi difficoltà di alimentazione, ritardo della crescita e microcefalia da deficit di ASXL3"],"definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, con un fenotipo variabile caratterizzato da microcefalia, gravi difficoltà di alimentazione, ritardo della crescita, grave ritardo dello sviluppo globale che spesso si associa ad assenza/deficit del linguaggio, disabilità intellettiva moderata-grave e ipotonia. I dismorfismi craniofacciali caratteristici comprendono la fronte prominente, le sopracciglia arcuate e sottili, l'ipertelorismo, le rime palpebrali oblique verso il basso, il naso lungo e tubolare con punta larga e sella prominente, e la bocca grande con labbro inferiore carnoso e anteverso. Sono comuni la lassità articolare e la deviazione ulnare dei polsi."},"nl":{"name":"Syndroom van Bainbridge-Ropers","synonyms":["Ernstige voedingsproblemen - niet-gedijen - microcefalie door deficiëntie van ASXL3-syndroom"],"definition":"Een zeldzame, genetische syndromale intellectuele achterstand met variabele fenotypische presentatie, doorgaans gekenmerkt door microcefalie, ernstige voedingsproblemen, niet-gedijen, ernstige algehele ontwikkelingsachterstand die vaak resulteert in afwezige/ondermaatse spraak, matige tot ernstige intellectuele achterstand, en hypotonie. Typische craniofaciale kenmerken zijn onder meer prominent voorhoofd, hoog gebogen en dunne wenkbrauwen, hypertelorisme, schuin naar beneden hellende ooglidspleten, lange en buisvormige neus met brede punt en prominente neusbrug, en brede mond met volle, geëverteerde onderlip. Gewrichtslaxiteit en ulnaire deviatie van de polsen worden ook vaak waargenomen."},"pt":{"name":"Síndrome Brainbridge-Ropers","synonyms":["Síndrome de dificuldades alimentares graves-falência no crescimento-microcefalia devido a deficiência ASXL3"]},"pl":{"name":"Ciężkie trudności w karmieniu - zahamowanie wzrostu - małogłowie spowodowane niedoborem ASXL3","synonyms":["Zespół Bainbridge'a i Roppersa"],"definition":"**Ciężkie trudności w karmieniu – zahamowanie wzrostu – małogłowie spowodowane niedoborem spowodowane niedoborem ASXL3 jest rzadkim, genetycznie uwarunkowanym zespołem niepełnosprawności intelektualnej ze zmiennym obrazem fenotypowym, na który zwykle składa się małogłowie, ciężkie trudności w karmieniu, brak prawidłowego rozwoju, znaczne całościowe opóźnienie rozwoju, w przebiegu którego obserwuje się brak/słaby rozwój mowy, niepełnosprawność intelektualną od umiarkowanej do głębokiej, obniżenie napięcia mięśniowego oraz cechy dysmorfii twarzy: wydatne czoło, łukowate i cienkie brwi, hiperteloryzm, skośnie w dół ustawione szpary powiekowe, długi, rurkowaty nos z szerokim czubkiem i wydatnym grzbietem oraz szerokie usta z wydatną, wywiniętą wargą dolną."},"cs":{"name":"Syndrom zahrnující těžkou poruchu příjmu potravy, neprospívání a mikrocefalii, způsobený deficitem ASXL3","synonyms":["Bainbridgeův-Roppersův syndrom","Bainbridge-Roppersův syndrom"]},"uk":{"name":"Синдром Бейнбриджа-Роперса","synonyms":["Синдром виражених труднощів з харчуванням - відставання у розвитку - мікроцефалії через дефіцит ASXL3"],"definition":"A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed."},"zh":{"name":"ASXL3基因缺陷所致严重喂养困难-发育停滞-小头畸形综合征","synonyms":["Bainbridge-Ropers综合征"],"definition":"ASXL3基因缺乏所致重度进食困难-生长发育迟滞-小头畸形是一种罕见的遗传性综合征性智障障碍，其典型特征是小头畸形、严重进食困难、生长发育迟滞，严重的整体发育迟缓，经常导致语言缺失/贫乏、中度至重度智力障碍、肌张力减退和独特面容，包括前额突出、眉细而高拱、眼距过宽、睑裂下斜、长管状鼻伴宽鼻尖和突鼻梁，嘴巴宽，下唇丰满外翻。"},"tr":{"name":"ASXL3 eksikliği sendromuna bağlı ağır beslenme zorlukları-gelişememe-mikrosefali","synonyms":["Bainbridge-Ropers sendromu"]}},"xrefs":[{"source":"OMIM","code":"615485","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014205","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000726367","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750837","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13259","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]}],"children":[],"genes":[{"symbol":"ASXL3","name":"ASXL transcriptional regulator 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23383720[PMID]","hgnc":"29357","ensembl":"ENSG00000141431","omim":"615115","loci":["18q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":77.0,"area":"Worldwide","status":"Validated","source":"28955728[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28955728[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-05","source":"31180560[PMID]_27901041[PMID]_28100473[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004673","label":"Decreased facial expression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100023","label":"Recurrent hand flapping","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}