{"orpha":2745,"name":"Opitz GBBB syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hypertelorism-hypospadias syndrome","Hypertelorism-oesophageal abnormality-hypospadias syndrome","Hypospadias-dysphagia syndrome","Opitz BBB/G syndrome","Opitz BBBG syndrome","Opitz G/BBB syndrome","Opitz-Frias syndrome"],"definition":"A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2745/","orphanet_url":"https://www.orpha.net/en/disease/detail/2745","names":{"fr":{"name":"Syndrome d'Opitz GBBB","synonyms":["Syndrome d'Opitz BBBG","Syndrome d'Opitz G/BBB","Syndrome d'Opitz-Frias","Syndrome d'hypertélorisme-anomalies de l'oesophage-hypospadias","Syndrome d'hypertélorisme-hypospadias","Syndrome d'hypospadias-dysphagie","Syndrome d'Opitz BBB/G"],"definition":"Syndrome rare de malformation congénitale de la ligne médiane lié au chromosome X, caractérisé par un hypertélorisme, des anomalies laryngo-trachéo-oesophagiennes et un hypospadias."},"de":{"name":"Opitz G/BBB-Syndrom","synonyms":["Hypertelorismus-Hypospadie-Syndrom","Hypertelorismus-Ösophagusanomalie-Hypospadie-Syndrom","Hypospadie-Dyspaghie-Syndrom","Opitz BBB/G-Syndrom","Opitz-BBBG-Syndrom","Opitz-Frias-Syndrom"],"definition":"Ein seltenes X-chromosomales Syndrom mit kongenitalen Fehlbildungen der Mittellinie, das durch Hypertelorismus, laryngo-tracheo-ösophageale Defekte und Hypospadie gekennzeichnet ist."},"es":{"name":"Síndrome de Opitz GBBB","synonyms":["Síndrome de Opitz BBB/G","Síndrome de Opitz BBBG","Síndrome de Opitz G/BBB","Síndrome de Opitz-Frias","Síndrome de hipertelorismo-anomalías esofágicas-hipospadias","Síndrome de hipertelorismo-hipospadias","Síndrome de hipospadias-disfagia"],"definition":"Es un síndrome poco frecuente de malformación congénita de la línea media ligado al cromosoma X que se caracteriza por hipertelorismo, defectos laringo-traqueo-esofágicos e hipospadias."},"it":{"name":"Sindrome di Opitz GBBB","synonyms":["Sindrome di Opitz BBB/G","Sindrome di Opitz BBBG","Sindrome di Opitz G/BBB","Sindrome di Opitz-Frias","Sindrome ipertelorismo-anomalia esofagea-ipospadia","Sindrome ipospadia-disfagia","Sindrome ipospadia-ipertelorismo"],"definition":"La sindrome di Optiz GBBB (GBBB) è una malformazione congenita rara della linea mediana legata all'X, caratterizzata da ipertelorismo, difetti laringo-tracheo-esofagei e ipospadia."},"nl":{"name":"Opitz GBBB-syndroom","synonyms":["Hypertelorisme - hypospadie-syndroom","Hypertelorisme - oesofageale anomalie - hypospadie-syndroom","Hypospadie - dysfagie-syndroom","Opitz BBB/G-syndroom","Opitz BBBG-syndroom","Opitz G/BBB-syndroom","Syndroom van Opitz-Frias"],"definition":"Een zeldzaam X-gebonden congenitaal syndroom met mediane malformatie, gekarakteriseerd door hypertelorisme, laryngo-tracheo-oesofageale defecten en hypospadie."},"pt":{"name":"Síndrome Opitz GBBB","synonyms":["Síidrome de hipospadias-hipertelorismo-anomalias esofágicas","Síndrome Opitz BBBG","Síndrome Opitz-Frias","Síndrome de hipospadias-disfagia"]},"pl":{"name":"Zespół Opitza GBBB","synonyms":["Zespół hiperteloryzm-nieprawidłowość przełyku-spodziectwo","Zespół Opitza","Zespół spodziectwo-dysfagia","Zespół spodziectwo-hiperteloryzm"]},"cs":{"name":"Opitzův G/BBB syndrom","synonyms":["Syndrom zahrnující hypertelorismus, jícnovou abnormalitu a hypospadii","Syndrom zahrnující hypospadii a dysfagii","Syndrom zahrnující hypospadii a hypertelorismus","Opitzův syndrom","Opitzův-Friasův syndrom","Opitz-Friasův syndrom"]},"uk":{"name":"Синдром Опітца GBBB","synonyms":["Синдром гіпертелоризму-гіпоспадії","Синдром гіпертелоризму - аномалії стравоходу - гіпоспадії","Синдром гіпоспадії-дисфагії","Синдром Опітца BBB/G","Синдром Опітца BBBG","Синдром Опітца G/BBB","Синдром Опітца-Фріаса"],"definition":"A rare X-linked congenital midline malformation syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias."},"zh":{"name":"Opitz G/BBB综合征","synonyms":["眼距过宽-食管畸形-尿道下裂综合征"]},"tr":{"name":"Opitz G / BBB sendromu","synonyms":["Opitz sendromu","Opitz-Frias sendromu","Hipospadiyas-disfaji sendromu","Hipospadiyas-hipertelorizm sendromu","Hipertelorizm-özofageal anormallik-hipospadiyas sendromu"]}},"xrefs":[{"source":"OMIM","code":"300000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017138","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936904","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"193","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":306588,"name":"OBSOLETE: Autosomal dominant Opitz G/BBB syndrome","status":"inactive"},{"type":"Referred to","orpha":306597,"name":"OBSOLETE: X-linked Opitz G/BBB syndrome","status":"inactive"}],"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":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":108995,"name":"Syndromic respiratory or mediastinal malformation","classifications":[147,186]},{"orpha":98575,"name":"Syndromic telecanthus","classifications":[147,156,189]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"MID1","name":"midline 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15558842[PMID]","hgnc":"7095","ensembl":"ENSG00000101871","omim":"300552","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"EXPERT"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-13","source":"20301502[PMID]_30472488[PMID]","terms":[{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008751","label":"Laryngeal cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100879","label":"Enlarged ovaries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010296","label":"Ankyloglossia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010518","label":"Thyroglossal cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very rare (<4-1%)","criteria":null}]}}