{"orpha":2769,"name":"Familial osteodysplasia, Anderson type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2769/","orphanet_url":"https://www.orpha.net/en/disease/detail/2769","names":{"fr":{"name":"Ostéodysplasie familiale type Anderson","definition":"Dysostose génétique rare caractérisée par des anomalies osseuses craniofaciales (hypoplasie de l'étage moyen de la face, pont nasal large et plat, mandibule prognathe étroite et mince avec menton pointu, malocclusion, agénésie dentaire partielle) associées à d'autres anomalies osseuses, notamment une scoliose, un amincissement de la voûte crânienne, des apophyses épineuses pointues, une clinodactylie et des phalanges anormales. Une vitesse de sédimentation érythrocytaire élevée, une hyperuricémie et une hypertension ont également été rapportées. Aucun cas n'a été décrit dans la littérature depuis 1982."},"de":{"name":"Osteodysplasie, familiäre, Typ Anderson"},"es":{"name":"Osteodisplasia familiar, tipo Anderson","definition":"La osteodisplasia familiar tipo Anderson, es un trastorno genético poco frecuente, caracterizado por anomalías de los huesos craneofaciales (hipoplasia del tercio medio facial, puente nasal ancho y plano, mandíbula prominente estrecha y delgada con mentón puntiagudo, maloclusión dental, agenesia dental parcial) y asociado a anomalías óseas como escoliosis, adelgazamiento de la calvaria, apófisis espinosas puntiagudas, clinodactilia y falanges anómalas. También se ha descrito aumento en la velocidad de sedimentación de eritrocitos, hiperuricemia e hipertensión. No se han descrito más casos en la literatura desde 1982."},"it":{"name":"Osteodisplasia familiare, tipo Anderson","definition":"L'osteodisplasia familiare tipo Anderson è una disostosi genetica rara, caratterizzata da anomalie delle ossa craniofacciali (ipoplasia medio-facciale, sella nasale ampia e piatta, mandibola stretta e sottile con prognatismo e mento appuntito, malocclusione ed agenesia parziale dei denti), associate ad altre anomalie scheletriche, che comprendono la scoliosi, l'assottigliamento delle ossa della volta cranica, i processi spinosi appuntiti, la clinodattilia e le anomalie delle falangi. Altri segni clinici sono l'aumento della velocità di eritrosedimentazione, l'iperuricemia e l'ipertensione. Non sono stati descritti nuovi casi dopo il 1982."},"nl":{"name":"Familiale osteodysplasie, Anderson-type","definition":"Familiale osteodysplasie, Anderson-type is een zeldzame, genetische dysostose die gekarakteriseerd wordt door craniofaciale botafwijkingen (i.e. hypoplasie van het middengezicht, brede en platte neusbrug, smalle en dunne vooruitstekende onderkaak met puntige kin, malocclusie, partiële dentale agenesie), geassocieerd met bijkomende botanomalieën waaronder scoliose, verdunning van het schedeldak, wervels met puntige doornuitsteeksels (processus spinosus), clinodactylie en abnormale falangen. Verhoogde erytrocytbezinkingssnelheid, hyperurikemie en hypertensie werden ook reeds gerapporteerd. Sinds 1982 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Osteodisplasia familiar, tipo Anderson"},"pl":{"name":"Rodzinna osteodysplazja typu Andersona","definition":"*Rodzinna osteodysplazja typu Andersona jest rzadką, genetycznie uwarunkowaną dyzostozą, która charakteryzuje się nieprawidłowościami kości twarzoczaszki (tj. niedorozwój środkowej części twarzy, szeroki, płaski grzbiet nosa, wąska, cienka i wysunięta żuchwa ze spiczastym podbródkiem, wady zgryzu, częściowa agenezja uzębienia), z towarzyszącymi dodatkowymi wadami kostnymi, takimi jak skolioza, ścieńczenie sklepienia czaszki, spiczaste wyrostki kolczyste, klinodaktylia i nieprawidłowe paliczki. Opisywano również podwyższone OB, hiperurykemię i nadciśnienie tętnicze. Od 1982 roku w literaturze nie ma nowych opisów."},"cs":{"name":"Familiární osteodysplázie, Andersonův typ"},"uk":{"name":"Сімейна остеодисплазія, тип Андерсона","definition":"Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982."},"zh":{"name":"家族性骨发育不良，Anderson型"},"tr":{"name":"Ailesel osteodisplazi, Anderson tipi"}},"xrefs":[{"source":"OMIM","code":"259250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"107132680"},{"source":"MONDO","code":"0009801","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564923","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850186","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4136","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"5067603[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5067603[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-07","source":null,"terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000309","label":"Abnormal midface morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010668","label":"Abnormal zygomatic bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005613","label":"Aplasia/hypoplasia of the femur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006660","label":"Aplastic clavicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010443","label":"Bifid femur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006352","label":"Failure of eruption of permanent teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}