{"orpha":861,"name":"Treacher-Collins syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Franceschetti-Klein syndrome","Mandibulofacial dysostosis without limb anomalies"],"definition":"A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-861/","orphanet_url":"https://www.orpha.net/en/disease/detail/861","names":{"fr":{"name":"Syndrome de Treacher-Collins","synonyms":["Dysostose mandibulo-faciale sans anomalies des extrémités","Syndrome de Franceschetti-Klein"],"definition":"Dysostose mandibulo-faciale d'origine génétique rare caractérisée par une dysplasie oto-mandibulaire bilatérale symétrique, à savoir, des pommettes sous-développées (hypoplasie malaire), une très petite mâchoire inférieure (micrognathie) et des fentes palpébrales inclinées vers le bas, un colobome des paupières inférieures, une microtie, une perte d'audition, en l'absence d'anomalies des extrémités. L'intelligence est normale."},"de":{"name":"Treacher-Collins-Syndrom","synonyms":["Franceschetti-Klein-Syndrom","Mandibulofaziale Dysostose ohne Extremitätenanomalien"],"definition":"Eine seltene genetisch bedingte mandibulofaziale Dysostose, die durch eine beidseitige symmetrische oto-mandibuläre Dysplasie mit unterentwickelten Wangenknochen (Malarhypoplasie), einem sehr kleinen Unterkiefer (Mikrognathie) und nach unten geneigten Lidspalten, Kolobom der unteren Augenlider, Mikrotie, Schwerhörigkeit und ohne Anomalien der Extremitäten gekennzeichnet ist. Die Intelligenz ist normal."},"es":{"name":"Síndrome de Treacher-Collins","definition":"Es una disostosis mandibulofacial de origen genético poco frecuente caracterizada por displasia oto-mandibular simétrica bilateral que incluye pómulos infradesarrollados (hipoplasia malar), mandíbula inferior muy pequeña (micrognatia) y fisuras palpebrales descendentes, coloboma de los párpados inferiores, microtia, e hipoacusia. No hay anomalías en las extremidades y la inteligencia es normal."},"it":{"name":"Sindrome di Treacher-Collins","synonyms":["Disostosi mandibolofacciale","Sindrome di Franceschetti-Klein"],"definition":"Si tratta di una disostosi mandibolo-facciale genetica rara, caratterizzata da displasia oto-mandibolare simmetrica bilaterale, zigomi iposviluppati (ipoplasia malare), mandibola bassa ipoplastica (micrognazia), rime palpebrali oblique verso il basso, coloboma delle palpebre inferiori, microtia e sordità, in assenza di anomalie degli arti. L'intelligenza è normale."},"nl":{"name":"Syndroom van Treacher-Collins","synonyms":["Mandibulofaciale dysostose zonder ledemaatanomalieën","Syndroom van Franceschetti-Klein"],"definition":"Een zeldzame, genetische mandibulofaciale dysostose, gekarakteriseerd door bilaterale symmetrische otomandibulaire dysplasie met onder meer onderontwikkelde jukbeenderen (malaire hypoplasie), een zeer kleine onderkaak (micrognathie) en schuin naar beneden hellende ooglidspleten, coloboom van onderste oogleden, microtie, en gehoorverlies, zonder afwijkingen van de ledematen. De intelligentie is normaal."},"pt":{"name":"Síndrome Treacher-Collins","synonyms":["Disostose mandibulofacial","Síndrome Franceschetti-Klein"],"definition":"A síndrome de Treacher-Collins é uma patologia congénita do desenvolvimento craniofacial caracterizada por displasia oto-mandibular simétrica bilateral sem anomalias das extremidades, associada a vários defeitos da cabeça e pescoço."},"pl":{"name":"Zespół Treachera i Collinsa","synonyms":["Dyzostoza żuchwowo-twarzowa bez wad kończyn","Zespół Franceschetti i Kleina"],"definition":"Zespół Treachera i Collinsa to wrodzone zaburzenie rozwoju twarzoczaszki charakteryzujące się obustronną symetryczną dysplazją uszno-żuchwową."},"cs":{"name":"Treacher Collinsův syndrom","synonyms":["Franceschettiho syndrom","Franceschetti-Zwahlen-Klein syndrom","Franceschettiho-Kleinův syndrom","Mandibulofaciální dysostóza s anomáliemi končetin","Franceschetti-Kleinův syndrom"]},"uk":{"name":"Синдром Трічера-Коллінза","synonyms":["Синдром Франческетті-Клейна","Мандибулофаціальний дизостоз без аномалій кінцівок"],"definition":"A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal."},"zh":{"name":"下颌面骨发育不全","synonyms":["下颌面骨发育不全不伴肢体畸形"]},"tr":{"name":"Treacher-Collins sendromu","synonyms":["Franceschetti-Klein sendromu","Ekstremite anomalileri olmayan mandibulofasiyal dizostoz"]}},"xrefs":[{"source":"OMIM","code":"154500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"248390","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613717","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618939","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"969026676"},{"source":"MONDO","code":"0002457","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0242387","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9124","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":155899,"name":"Mandibulofacial dysostosis","classifications":[147,156,199,200,209]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":138050,"name":"Pierre Robin syndrome associated with branchial archs anomalies","classifications":[147,156,200,209]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":98566,"name":"Syndromic eyelid coloboma","classifications":[147,156,189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]},{"orpha":98576,"name":"Syndromic outer canthal malposition","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"POLR1B","name":"RNA polymerase I subunit B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25790162[PMID]","hgnc":"20454","ensembl":"ENSG00000125630","omim":"602000","loci":["2q14.1"]},{"symbol":"POLR1C","name":"RNA polymerase I and III subunit C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301704[PMID]","hgnc":"20194","ensembl":"ENSG00000171453","omim":"610060","loci":["6p21.1"]},{"symbol":"POLR1D","name":"RNA polymerase I and III subunit D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301704[PMID]","hgnc":"20422","ensembl":"ENSG00000186184","omim":"613715","loci":["13q12.2"]},{"symbol":"TCOF1","name":"treacle ribosome biogenesis factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301704[PMID]","hgnc":"11654","ensembl":"ENSG00000070814","omim":"606847","loci":["5q32-q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.63,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.9,"area":"Japan","status":"Validated","source":"7424972[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Japan","status":"Not yet validated","source":"7424972[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"6024864[PMID]_14198411[PMID]_21131976[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"6024864[PMID]_14198411[PMID]_ [EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-23","source":"20301704[PMID]_34573374[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004348","label":"Abnormality of bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011219","label":"Short face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000370","label":"Abnormality of the middle ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011386","label":"Narrow internal auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011481","label":"Abnormal lacrimal duct morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000834","label":"Abnormality of the adrenal glands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009795","label":"Branchial fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000778","label":"Hypoplasia of the thymus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005701","label":"Multiple enchondromatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009554","label":"Preauricular hair displacement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000143","label":"Rectovaginal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}