{"orpha":557003,"name":"Oculoskeletodental syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Oculo-skeleto-dental syndrome"],"definition":"A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-557003/","orphanet_url":"https://www.orpha.net/en/disease/detail/557003","names":{"fr":{"name":"Syndrome oculo-squeletto-dentaire","definition":"Ciliopathie rare caractérisée par une cataracte congénitale avec glaucome secondaire, un retard de développement, une petite taille, de multiples malformations du squelette (déformations de la colonne vertébrale, malformation des membres, retard de l'âge osseux), des malformations dentaires (oligodontie, défauts de l'émail), une dysmorphie faciale (y compris des traits grossiers, implantation basse des cheveux, des plis épicanthaux, une arête nasale plate et large, une rétrognathie), et un accident vasculaire cérébral. Les autres signes cliniques récurrentes sont la perte d'audition et la néphrocalcinose."},"de":{"name":"Okuloskeletodentales Syndrom","definition":"Eine seltene Ziliopathie, die durch kongenitale Katarakt mit sekundärem Glaukom, Entwicklungsverzögerung, Kleinwuchs, multiple Skelettanomalien (Wirbelsäulendeformitäten, Gliedmaßenanomalien, verzögertes Knochenalter), Zahnanomalien (Oligodontie, Zahnschmelzdefekte), Gesichtsdysmorphien (einschließlich grobe Gesichtszüge, niedriger Haaransatz, Epikanthusfalten, flache und breite Nasenrücken und Retrognathie) und Schlaganfall gekennzeichnet ist. Andere wiederkehrende Erscheinungen sind Schwerhörigkeit und Nephrokalzinose."},"es":{"name":"Síndrome oculoesqueletodental","synonyms":["Síndrome óculo-esquelético-dental"],"definition":"Es una ciliopatía poco frecuente caracterizada por catarata congénita con glaucoma secundario, retraso del desarrollo, talla baja, múltiples anomalías esqueléticas (deformidades vertebrales, anomalías de las extremidades, retraso de la edad ósea), dentales (oligodoncia, defectos del esmalte), rasgos faciales dismórficos (incluyendo facies tosca, línea de implantación del cabello baja, pliegues epicánticos, puente nasal plano y ancho y retrognatia) y accidente cerebrovascular. Otras manifestaciones recurrentes son la hipoacusia y la nefrocalcinosis."},"it":{"name":"Sindrome oculo-cerebro-dentale","synonyms":["Sindrome oculo-scheletro-dentale"],"definition":"Si tratta di una ciliopatia rara, caratterizzata da cataratta congenita con glaucoma secondario, ritardo dello sviluppo, bassa statura, anomalie scheletriche multiple (deformità della colonna vertebrale, anomalie degli arti, ritardo dell'età ossea), anomalie dei denti (oligodontia, difetti dello smalto), dismorfismi facciali (aspetto grossolano del viso, bassa attaccatura dei capelli, epicanto, sella nasale piatta e larga, retrognazia) e ictus. Altri segni clinici comuni sono la sordità e la nefrocalcinosi."},"nl":{"name":"Oculoskeletodentaal syndroom","synonyms":["Oculo-skeleto-dentaal syndroom"],"definition":"Een zeldzame ciliopathie, gekarakteriseerd door congenitaal cataract met secundair glaucoom, ontwikkelingsachterstand, kleine gestalte, multipele skeletanomalieën (misvorming van wervelkolom, ledemaatanomalieën, vertraagde botmaturatie), gebitsanomalieën (oligodontie, defecten van tandglazuur), dysmorfe gelaatskenmerken (waaronder ruwe gelaatstrekken, lage haarlijn, epicanthusplooien, platte en brede neusbrug, en retrognathie), en beroerte. Andere geregeld voorkomende manifestaties zijn gehoorverlies en nefrocalcinose."},"pt":{"name":"Síndrome oculoesqueletodentária","synonyms":["Síndrome óculo-esqueleto-dentária"]},"pl":{"name":"Zespół oczno-mózgowo-zębowy","synonyms":["Oculo-skeleto-dental syndrome"]},"cs":{"name":"Okuloskeletodentální syndrom","synonyms":["Oculo-skeleto-dental syndrome"]},"uk":{"name":"Окулоскелетно-зубний синдром","synonyms":["Окуло-скелето-стоматологічний синдром"],"definition":"A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis."},"zh":{"name":"眼-脑-肾综合征","synonyms":["Oculo-cerebro-dental syndrome"],"definition":"一种罕见的纤毛病，其特征是先天性白内障伴有继发性青光眼、发育迟缓、身材矮小、多种骨骼畸形（脊柱畸形、四肢异常、骨龄延迟）、牙齿异常（少牙畸形、牙釉质缺损）、面部畸形（包括粗大面容、低发际、内眦赘皮褶、鼻梁扁平宽大、颌后缩）和中风。其他反复出现的是听力损失和肾钙质沉着症。"},"tr":{"name":"Oküloserebrodental sendrom","synonyms":["Okülo-serebro-dental sendrom"]}},"xrefs":[{"source":"OMIM","code":"618440","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0034145","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"34145","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5193101","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":363250,"name":"Ciliopathy","classifications":[156]},{"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]},{"orpha":93447,"name":"Primary bone dysplasia with defective bone mineralization","classifications":[147,156,199]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":77830,"name":"Rare genetic odontologic disease","classifications":[156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"PIK3C2A","name":"phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31034465[PMID]","hgnc":"8971","ensembl":"ENSG00000011405","omim":"603601","loci":["11p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"31034465[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_31034465[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-16","source":"31034465[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011020","label":"Abnormality of mucopolysaccharide metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000599","label":"Abnormality of the frontal hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010663","label":"Abnormality of thalamus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006989","label":"Dysplastic corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007042","label":"Focal white matter lesions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003090","label":"Hypoplasia of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}