{"orpha":363444,"name":"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BBIS","Beaulieu-Boycott-Innes syndrome"],"definition":"A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363444/","orphanet_url":"https://www.orpha.net/en/disease/detail/363444","names":{"fr":{"name":"Syndrome de retard de développement-microcéphalie-dysmorphie faciale associé à THOC6","synonyms":["BBIS","Syndrome de Beaulieu-Boycott-Innes"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique, autosomique récessive, caractérisée par un retard de développement global, une microcéphalie légère, une déficience intellectuelle légère à sévère et une dysmorphie faciale non spécifique en association avec de multiples anomalies congénitales variables, y compris des malformations congénitales cardiaques, des anomalies dentaires, une cryptorchidie et des malformations rénales et cérébrales. La petite taille est fréquente."},"de":{"name":"THOC6-assoziierte Entwicklungsverzögerung mit Mikrozephalie und Gesichtsdysmorphien","synonyms":["BBIS","Beaulieu-Boycott-Innes-Syndrom"],"definition":"Eine syndromale Form der Intelligenzminderung, die durch eine globale Entwicklungsverzögerung, eine leichte Mikrozephalie, eine leichte bis schwere Intelligenzminderung und unspezifische Gesichtsdysmorphien in Verbindung mit variablen multiplen kongenitalen Anomalien einschließlich angeborener Herzfehler, Zahnanomalien, Kryptorchismus, Nieren- und zerebraler Fehlbildungen gekennzeichnet ist. Kleinwuchs ist häufig."},"es":{"name":"Síndrome de retraso del desarrollo-microcefalia-dismorfia facial asociado al gen THOC6","synonyms":["Síndrome de Beaulieu-Boycott-Innes"],"definition":"Es un trastorno de discapacidad intelectual sindrómica, autosómico recesivo y poco frecuente, caracterizado por un retraso global del desarrollo, leve microcefalia, discapacidad intelectual de leve a grave y dismorfia facial inespecífica en asociación con múltiples anomalías congénitas variables, como defectos cardíacos congénitos, anomalías dentales, criptorquidia y malformaciones renales y cerebrales. Con frecuencia asocia talla baja."},"it":{"name":"Sindrome da ritardo dello sviluppo, microcefalia e dismorfismi facciali correlata a THOC6","definition":"Si tratta di una disabilità intellettiva sindromica rara a trasmissione autosomica recessiva, caratterizzata da ritardo dello sviluppo globale, microcefalia lieve, disabilità intellettiva lieve-grave e dismorfismi facciali aspecifici associati ad anomalie congenite multiple variabili, che comprendono le cardiopatie congenite, le anomalie dei denti, il criptorchidismo, e le malformazioni renali e cerebrali. È comune la bassa statura."},"nl":{"name":"THOC6-gerelateerd ontwikkelingsachterstand - microcefalie - faciale dysmorfie-syndroom","synonyms":["BBIS","Syndroom van Beaulieu-Boycott-Innes"],"definition":"Een zeldzame, autosomaal recessieve, syndromale intellectuele achterstand, gekarakteriseerd door algehele ontwikkelingsachterstand, milde microcefalie, milde tot ernstige intellectuele achterstand, en aspecifieke faciale dysmorfie in associatie met variabele multipele congenitale anomalieën waaronder congenitale hartdefecten, dentale anomalieën, cryptorchisme, en renale en cerebrale malformaties. Kleine gestalte komt vaak voor."},"pt":{"name":"Síndrome de perturbação do desenvolvimento-microcefalia-dismorfia facial THOC6-relacionada"},"pl":{"name":"Zespół opóźnienia rozwoju zależnego od THOC6, małogłowia i dysmorfii twarzy","synonyms":["BBIS","Zespół Beaulieu, Boycotta, Innesa"],"definition":"*Zespół opóźnienia rozwoju zależnego od THOC6, małogłowia i dysmorfii twarzy jest rzadkim, genetycznie uwarunkowanym zespołem niepełnosprawności intelektualnej, który charakteryzuje się całościowym opóźnieniem rozwoju, małogłowiem, umiarkowaną lub znaczną niepełnosprawnością intelektualną i dysmorfią twarzy wysokie czoło, wysoko położona przednia linia włosów, skośnie ku górze ustawione krótkie szpary powiekowe, głęboko osadzone gałki oczne i długi nos z nisko schodzącą kolumienką. Ponadto mogą towarzyszyć wrodzone wady rozwojowe nerek i serca (np. nerka podkowiasta, jednostronna agenezja nerki, wada przegrody przedsionkowo-komorowej, przetrwały przewód tętniczy), a także dysplazja ciała modzelowatego.inf brsup"},"cs":{"name":"Syndrom zahrnující opoždění vývoje, mikrocefalii a faciální dysmorfismus, typ Hutterite","synonyms":["BBIS","Beaulieu-Boycott-Innes syndrome"]},"uk":{"name":"Синдром затримки розвитку-мікроцефалії-лицьового дисморфізму, повязаний з THOC6","synonyms":["BBIS","Синдром Больє-Бойкотта-Іннеса"],"definition":"A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent."},"zh":{"name":"THOC6基因相关发育迟缓-小头-面部畸形综合征","synonyms":["BBIS"],"definition":"THOC6相关的发育迟缓-小头畸形-面部畸形综合征是一种罕见的遗传性综合征智力障碍，其特征为全面发育迟缓、小头畸形、中至重度智力障碍和面部畸形，包括前额高、前发际线高、睑裂短且上斜、深陷的眼睛和长鼻子以及低鼻梁。此外，先天性肾和心脏畸形(如马蹄肾、单侧肾发育不全、房室隔缺损、动脉导管未闭)以及胼胝体发育不良也可能与本病有关。"},"tr":{"name":"THOC6-ilişkili gelişme geriliği-mikrosefali-yüz dismorfizm sendromu","synonyms":["Beaulieu-Boycott-Innes sendromu","BBIS"]}},"xrefs":[{"source":"OMIM","code":"613680","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013362","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150939","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":"THOC6","name":"THO complex subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23621916[PMID]","hgnc":"28369","ensembl":"ENSG00000131652","omim":"615403","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"23621916[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":"2019-11-07","source":"30476144[PMID]_27102954[PMID]_26739162[PMID]_20503307[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009765","label":"Low hanging columella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040196","label":"Mild microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006989","label":"Dysplastic corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030127","label":"Endometriosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012382","label":"Left-to-right shunt","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011623","label":"Muscular ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011682","label":"Perimembranous ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000215","label":"Thick upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010282","label":"Thin lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000220","label":"Velopharyngeal insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}