{"orpha":97297,"name":"Bohring-Opitz syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BOS syndrome","Bohring syndrome","C-like syndrome","Oberklaid-Danks syndrome","Opitz trigonocephaly-like syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97297/","orphanet_url":"https://www.orpha.net/en/disease/detail/97297","names":{"fr":{"name":"Syndrome de Bohring-Opitz","synonyms":["Syndrome BOS","Syndrome C-like","Syndrome Oberklaid-Danks","Syndrome d'Opitz-like-trigonocéphalie","Syndrome de Bohring"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par un retard de croissance intra-utérin, un retard de croissance post-natal, de grandes difficultés à s'alimenter, une microcéphalie/trigonocéphalie, une dysmorphie faciale, une posture spécifique des membres supérieurs et un retard de développement sévère. La posture spécifique des membres supérieurs se traduit par une rotation interne des épaules, une flexion des coudes, une déviation ulnaire des poignets et/ou des articulations métacarpophalangiennes."},"de":{"name":"Bohring-Opitz-Syndrom","synonyms":["BOS-Syndrom","Bohring-Syndrom","C-ähnliches-Syndrom","Oberklaid-Danks-Syndrom","Opitz Trigonozephalus-ähnliches Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch intrauterine Wachstumsretardierung (IUGR), postnatale Gedeihstörung, schwere Fütterungsprobleme, Mikrozephalie/Trigonozephalie, Gesichtsdysmorphien, eine charakteristische Ausrichtung der oberen Gliedmaßen (Innenrotation der Schultern, Ellbogenflexion und Ulnardeviation der Handgelenke und/oder der Zehengrundgelenke).und schwere Entwicklungsverzögerungen gekennzeichnet ist."},"es":{"name":"Síndrome de Bohring-Opitz","synonyms":["Síndrome BOS","Síndrome de Bohring","Síndrome de Oberklaid-Danks","Síndrome de trigonocefalia tipo Opitz","Síndrome tipo C","Síndrome tipo trigonocefalia de Opitz"],"definition":"Es un síndrome poco frecuente con múltiples anomalías congénitas caracterizado por retraso del crecimiento intrauterino (RCIU), fallo de medro posnatal, graves dificultades de alimentación, microcefalia/ trigonocefalia, dismorfia facial, una postura reconocible de las extremidades superiores y retraso grave del desarrollo. La postura de los miembros superiores consiste en la rotación interna de los hombros, flexión de los codos, desviación cubital de las muñecas y/o articulaciones metacarpofalángicas."},"it":{"name":"Sindrome di Bohring-Opitz","synonyms":["Sindrome BOS","Sindrome C-simile","Sindrome di Bohring","Sindrome di Oberklaid-Danks","Sindrome simil-trigonocefalica di Opitz"],"definition":"La sindrome di Bohring-Opitz (BOS) è una malattia rara da anomalie congenite multiple, caratterizzata da ritardo della crescita prenatale e postnatale, gravi difficoltà di alimentazione, microcefalia/trigonocefalia, dismorfismi facciali, postura caratteristica degli arti superiori e grave ritardo dello sviluppo. La postura degli arti superiori consiste nella rotazione interna delle spalle, nella flessione dei gomiti, e nella deviazione ulnare dei polsi e/o delle articolazioni metacarpo-falangee."},"nl":{"name":"Syndroom van Bohring-Opitz","synonyms":["BOS-syndroom","C-achtig syndroom","Opitz trigonocefalie-achtig syndroom","Syndroom van Bohring","Syndroom van Oberklaid-Danks"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door intra-uteriene groeiretardatie (IUGR), postnataal niet-gedijen, ernstige voedingsproblemen, microcefalie/trigonocefalie, faciale dysmorfie, herkenbare houding van bovenste ledematen, en ernstige ontwikkelingsachterstand. De houding van de bovenste ledematen bestaat uit interne rotatie van schouders, flexie van ellebogen, en ulnaire deviatie van polsen en/of metacarpofalangeale gewrichten."},"pt":{"name":"Síndrome C-like","definition":"Síndrome rara de anomalias congénitas múltiplas caracterizada por atraso de crescimento intrauterino (RCIU), deficiência de crescimento pós-natal, dificuldades graves na alimentação, microcefalia/trigonocefalia, dismorfismo facial, postura reconhecível do membro superior e perturbação grave do desenvolvimento. A postura do membro superior consiste na rotação interna dos ombros, flexão dos cotovelos, desvio ulnar dos punhos e/ou das articulações metacarpofalangianas."},"pl":{"name":"Zespół Bohringa i Opitza","synonyms":["Zespół Bohringa","Zespół BOS","Zespół Oberklaida i Danksa","Zespół podobny do C","Zespół podobny do trigonocefalii Opitza"]},"cs":{"name":"Bohringův-Opitzův syndrom","synonyms":["BOS syndrom","C-like syndrom","Bohringův syndrom","Oberklaidův-Danksův syndrom","Opitzův syndrom podobný trigonocefalii","Bohring-Opitzův syndrom","Oberklaid-Danksův syndrom"]},"uk":{"name":"Синдром Борінга-Опітца","synonyms":["Синдром Борінга","BOS-синдром","С-подібний синдром","Синдром Оберклайда-Данкса","Тригоноцефалоподібний синдром Опітца"],"definition":"A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints."},"zh":{"name":"Bohring-Opitz综合征","synonyms":["Opitz三角头畸形样综合征"],"definition":"该病是一种罕见的危及生命的先天性多发畸形，其特征是宫内生长受限、产后生长迟滞和面部畸形（小头或三角头畸形、随年龄而消退的眉间火焰痣（单纯型）、面部肌张力低下、额叶和颞部发际线低、多毛、连眉，眼睛大或突出、眼距过宽、眼睑裂向上、鼻梁低平且宽阔、鼻孔前倾、面颊饱满、耳低位和后倾成角度、唇裂和/或腭裂、高颚、小颌畸形和/或后颌畸形）。既往还报道过一种特殊姿势（BOS姿势），其特征是肩部外旋和/或内收，肘部和腕部屈曲，腕部和/或掌指关节尺偏。其他特征包括严重的进食困难、慢性呕吐、反复感染、多毛症、癫痫、躯干肌张力低下和四肢肌张力升高，以及大脑、眼睛、心脏和其他骨骼异常、向心性肥胖、严重智力残疾、睡眠障碍、尿潴留，罹患肾结石和肾母细胞瘤的风险增高。"},"tr":{"name":"Bohring-Opitz sendromu","synonyms":["BOS sendromu","C-benzeri sendrom","Bohring sendromu","Oberklaid-Danks sendromu","Opitz trigonosefali-benzeri sendrom"]}},"xrefs":[{"source":"OMIM","code":"605039","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011510","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537419","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796232","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10140","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":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ASXL1","name":"ASXL transcriptional regulator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21706002[PMID]","hgnc":"18318","ensembl":"ENSG00000171456","omim":"612990","loci":["20q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":46.0,"area":"Worldwide","status":"Validated","source":"29446906[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-14","source":"29446906[PMID]","terms":[{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002803","label":"Congenital contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006471","label":"Fixed elbow flexion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012537","label":"Food intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040082","label":"Happy demeanor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","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:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010733","label":"Naevus flammeus of the eyelid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006863","label":"Severe expressive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001525","label":"Severe failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003049","label":"Ulnar deviation of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012453","label":"Bilateral wrist flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006070","label":"Metacarpophalangeal joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010291","label":"Prominent palatine ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001734","label":"Annular pancreas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002885","label":"Medulloblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null}]}}