{"orpha":2645,"name":"Osteoglosphonic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Osteoglophonic dwarfism"],"definition":"A rare primary bone dysplasia with disorganized development of skeletal components characterized by rhizomelic dwarfism, severe craniofacial dysmorphism including craniosynostosis, acrocephaly, a prominent forehead, midface hypoplasia, hypertelorism, depressed nasal bridge, anteverted nostrils, macroglossia, unerupted teeth. Patients also present with short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. Intelligence is not affected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2645/","orphanet_url":"https://www.orpha.net/en/disease/detail/2645","names":{"fr":{"name":"Dysplasie ostéoglophonique","synonyms":["Nanisme ostéoglophonique"],"definition":"Dysplasie osseuse primaire rare avec développement anarchique d'un élément du squelette, caractérisée par un nanisme rhizomélique, une dysmorphie craniofaciale sévère à type de craniosynostose, d'acrocéphalie, de front proéminent, d'hypoplasie de l'étage moyen de la face, d'hypertélorisme, de pont nasal déprimé, de narines antéversées, de macroglossie et d'absence d'éruption dentaire. Les patients présentent également un cou court, des membres courts et arqués, des mains et des doigts courts et larges, et des pieds plats. L'intelligence n'est pas affectée."},"de":{"name":"Dysplasie, osteoglophone","synonyms":["Kleinwuchs, osteoglophoner"],"definition":"Eine seltene primäre Knochendysplasie mit desorganisierter Entwicklung der Skelettbestandteile, gekennzeichnet durch rhizomelischen Kleinwuchs, schweren kraniofazialen Dysmorphismus einschließlich Kraniosynostose, Akrozephalie, prominente Stirn, Mittelgesichtshypoplasie, Hypertelorismus, vertieften Nasenrücken, antevertierte Nasenlöcher, Makroglossie, uneruptierte Zähne. Die Patienten weisen außerdem einen kurzen Hals, kurze und gebogene Gliedmaßen, kurze und breite Hände und Finger sowie Plattfüße auf. Die Intelligenz ist nicht beeinträchtigt."},"es":{"name":"Displasia osteoglofónica","synonyms":["Enanismo osteoglofónico"],"definition":"Es una displasia ósea primaria poco frecuente, con desarrollo desorganizado de los componentes esqueléticos, caracterizada por talla baja significativa rizomélica, dismorfia craneofacial grave que incluye craneosinostosis, acrocefalia, frente prominente, hipoplasia del tercio medio facial, hipertelorismo, puente nasal deprimido, narinas antevertidas, macroglosia y dientes no erupcionados. Los pacientes también presentan cuello corto, acortamiento e incurvación de las extremidades, manos y dedos cortos y anchos, y pie plano. El desarrollo intelectual no se ve afectado."},"it":{"name":"Nanismo osteoglofonico"},"nl":{"name":"Osteoglofone dysplasie","synonyms":["Osteoglofone dwerggroei"],"definition":"Een zeldzame primaire botdysplasie met gedesorganiseerde ontwikkeling van componenten van het skelet, gekenmerkt door rhizomele dwerggroei, ernstige craniofaciale dysmorfie inclusief craniosynostose, acrocefalie, prominent voorhoofd, hypoplasie van middengezicht, hypertelorisme, ingezakte neusbrug, anteversie van de neusgaten, macroglossie, en niet-doorgebroken tanden. Patiënten vertonen ook een korte hals/nek, korte en kromme ledematen, korte en brede handen en vingers, en platte voeten. Intelligentie is niet aangetast."},"pt":{"name":"Nanismo osteoglofónico","definition":"Perturbação rara caracterizada por nanismo, anomalias craniofaciais graves e múltiplos dentes inclusos."},"pl":{"name":"Niskorosłość osteoglofoniczna","synonyms":["Osteoglophonic dwarfism"]},"cs":{"name":"Osteoglofonické trpaslictví","synonyms":["Osteoglophonic dwarfism"]},"uk":{"name":"Остеоглосфонна дисплазія","synonyms":["Остеоглофонічна карликовість"],"definition":"A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth."},"zh":{"name":"骨关节发育不良","synonyms":["单纯性三角头侏儒症"]},"tr":{"name":"Osteoglosfonik displazi","synonyms":["Osteoglofonik cücelik"]}},"xrefs":[{"source":"OMIM","code":"166250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1427874962"},{"source":"MONDO","code":"0008150","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536050","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432283","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4142","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"15625620[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"3409933[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3409933[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006283","label":"Multiple unerupted teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}