{"orpha":71267,"name":"Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome"],"definition":"A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71267/","orphanet_url":"https://www.orpha.net/en/disease/detail/71267","names":{"fr":{"name":"Syndrome de dentinogenèse imparfaite-petite taille-surdité-déficience intellectuelle","definition":"Syndrome malformatif rare avec dentinogenèse imparfaite, caractérisé par une dysplasie de la dentine avec décoloration opalescente et attrition sévère des dents primaires et permanentes, ainsi que par une éruption tardive, des couronnes bulbeuses, des racines effilées et pointues, et une oblitération canalaire progressive de la dentition permanente, associées à une petite taille proportionnée, une surdité neurosensorielle, une déficience intellectuelle légère et une dysmorphie faciale. Cette dernière se traduit par un nez proéminent, une racine nasale haute et un philtrum court. Des cas d'ostéoporose, de platyspondylie légère et d'épiphyses coniques ont également été rapportés."},"de":{"name":"Dentinogenesis imperfecta-Kleinwuchs-Hörverlust-Intelligenzminderung-Syndrom","definition":"Ein seltenes Fehlbildungssyndrom, das charakterisiert ist durch das gemeinsame Auftreten von Dentinogenesis imperfecta mit opaleszierenden Verfärbungen und starker Attrition von Milch- und bleibenden Zähnen, verzögertem Zahndurchbruch, knolligen Kronen, langen und konischen Wurzeln und fortschreitender Wurzelkanalverödung des bleibenden Gebisses. Es geht einher mit einer relativ kurzen Statur, Schallempfindungsschwerhörigkeit, leichter Intelligenzminderung und dysmorphen Gesichtszügen (prominente Nase mit hohem Nasenrücken, kurzes Philtrum). Auch Osteoporose, leichte Platyspondylie und konische Epiphysen wurden berichtet."},"es":{"name":"Síndrome de dentinogénesis imperfecta-talla baja-hipoacusia-discapacidad intelectual","synonyms":["Síndrome de dentinogénesis imperfecta-talla baja-sordera-discapacidad intelectual"],"definition":"Es un síndrome malformativo con dentinogénesis imperfecta poco frecuente caracterizado por displasia de la dentina con decoloración opalescente y atrición marcada de los dientes primarios y permanentes, y erupción tardía, coronas bulbosas, raíces largas y afiladas, y obliteración progresiva del conducto radicular de la dentición permanente. Se asocia a talla baja desproporcionada, pérdida auditiva neurosensorial, discapacidad intelectual leve y rasgos faciales dismórficos. Estos últimos incluyen nariz prominente con puente nasal alto y surco nasolabial corto. También se ha descrito la presencia de osteoporosis, platispondilia leve y epífisis en forma de cono."},"it":{"name":"Sindrome dentinogenesi imperfetta-bassa statura-sordità-disabilità intellettiva","synonyms":["Sindrome dentinogenesi imperfetta-bassa statura-sordità-disabilità intellettiva"],"definition":"Si tratta di una sindrome malformativa rara associata a dentinogenesi imperfetta, caratterizzata da displasia della dentina con decolorazione opalescente, marcato logoramento dei denti decidui e permanenti, ritardo dell'eruzione, corone globose, radici lunghe e affusolate e obliterazione progressiva del canale radicolare dei denti permanenti, associati a bassa statura proporzionata, sordità neurosensoriale, lieve disabilità intellettiva e dismorfismi facciali (naso prominente con sella prominente e filtro corto). I pazienti possono presentare anche osteoporosi, lieve platispondilia ed epifisi a forma di cono."},"nl":{"name":"Dentinogenesis imperfecta - kleine gestalte - gehoorverlies - intellectuele achterstand-syndroom","synonyms":["Dentinogenesis imperfecta - kleine gestalte - doofheid - intellectuele achterstand-syndroom"],"definition":"Een zeldzaam malformatiesyndroom met dentinogenesis imperfecta, gekarakteriseerd door dentinedysplasie met opaalachtige verkleuring en ernstige slijtage van melktanden en blijvende tanden, vertraagde eruptie, bolle tandkronen, lange en conische tandwortels, en progressieve obliteratie van wortelkanalen van blijvend gebit, geassocieerd met proportioneel kleine gestalte, sensorineuraal gehoorverlies, milde intellectuele beperking, en dysmorfe gelaatskenmerken. Deze laatste zijn onder meer prominente neus met hoge neusbrug en kort filtrum. Osteoporose, milde platyspondylie, en kegelvormige epifyse werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de dentinogénse imperfeita-baixa estatura-perda de audição-perturbação do desenvolvimento intelectual","synonyms":["Síndrome de dentinogénse imperfeita-baixa estatura-surdez-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Dentinogenesis imperfecta - niski wzrost - utrata słuchu- upośledzenie umysłowe","synonyms":["Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome"]},"cs":{"name":"Syndrom zahrnující dentinogenesis imperfecta, malý vzrůst, ztrátu sluchu a mentální postižení","synonyms":["Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome"]},"uk":{"name":"Синдром недосконалого дентиногенезу-низькорослості-втрати слуху-інтелектуальної недостатності","synonyms":["Синдром недосконалого дентиногенезу - низький зріст - глухота - розумова відсталість"],"definition":"A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported."},"zh":{"name":"牙本质发育不全-身材矮小-听力丧失-智力障碍综合征","synonyms":["牙本质发育不全-身材矮小-耳聋-智力障碍综合征"]},"tr":{"name":"Dentinogenesis imperfecta-kısa boy-işitme kaybı-zihinsel yetersizlik sendromu","synonyms":["Dentinogenezis imperfecta-kısa boy-sağırlık-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"25416010"},{"source":"MONDO","code":"0019102","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303592","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":180766,"name":"Malformative syndrome with dentinogenesis imperfecta","classifications":[147,156,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"16011615[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16011615[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000703","label":"Dentinogenesis imperfecta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}