{"orpha":73230,"name":"Ossification anomalies-psychomotor developmental delay syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73230/","orphanet_url":"https://www.orpha.net/en/disease/detail/73230","names":{"fr":{"name":"Syndrome d'anomalies de l'ossification-retard psychomoteur","definition":"Dysplasie osseuse primaire rare, caractérisée par un retard global de développement, une hypotonie, des anomalies de l'ossification de la voûte crânienne, des anomalies des os longs dues à des altérations du remodelage osseux, des malformations du thorax et une ostéopénie progressive. Les signes de dysmorphie faciale comprennent une microcéphalie, un hypertélorisme, une bouche étroite, une fente palatine et une micrognathie."},"de":{"name":"Syndrom der Ossifikationsstörung mit psychomotorischer Entwicklungsverzögerung","definition":"Eine seltene primäre Knochendysplasie, die durch eine globale Entwicklungsverzögerung, Hypotonie, Ossifikationsanomalien des Schädelgewölbes, Anomalien der langen Röhrenknochen aufgrund einer fehlerhaften Remodellierung, Fehlbildung des Brustkorbs und progressive Osteopenie gekennzeichnet ist. Zu den dysmorphen kraniofazialen Merkmalen gehören Mikrozephalie, Hypertelorismus, kleine Mundöffnung, Gaumenspalte und Mikrognathie."},"es":{"name":"Síndrome de anomalías de la osificación-retraso del desarrollo psicomotor","definition":"Es una displasia ósea primaria poco frecuente caracterizada por retraso global del desarrollo, hipotonía, anomalías de osificación de la bóveda craneal, afectación de los huesos largos debido a una remodelación defectuosa, malformaciones torácicas y osteopenia progresiva. Los rasgos craneofaciales dismórficos descritos son microcefalia, hipertelorismo, boca estrecha, paladar hendido y micrognatia."},"it":{"name":"Sindrome anomalie dell'ossificazione e ritardo dello sviluppo psicomotorio","definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da ritardo dello sviluppo globale, ipotonia, anomalie dell'ossificazione della volta cranica, anomalie delle ossa lunghe secondarie a difetti del rimodellamento, deformità del torace e osteopenia progressiva. I dismorfismi craniofacciali comprendono la microcefalia, l'ipertelorismo, la bocca stretta, la palatoschisi e la micrognazia."},"nl":{"name":"Ossificatieanomalieën - psychomotorische ontwikkelingsachterstand-syndroom","definition":"Een zeldzame primaire botdysplasie, gekenmerkt door algehele ontwikkelingsachterstand, hypotonie, anomalieën van ossificatie van schedeldak, afwijkingen van pijpbeenderen door gebrekkige remodellering, deformiteit van thorax, en progressieve osteopenie. Dysmorfe craniofaciale kenmerken zijn onder meer microcefalie, hypertelorisme, smalle mond, gespleten gehemelte, en micrognathie."},"pt":{"name":"Síndrome de anomalias da ossificação-atraso do desenvolvimento psicomotor"},"pl":{"name":"Zaburzenia kostnienia - opóźnienie rozwoju psychomotorycznego"},"cs":{"name":"Syndrom zahrnující osifikační anomálie a opožděný psychomotorický vývoj"},"uk":{"name":"Синдром аномалії окостеніння-затримки психомоторного розвитку","definition":"A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia."},"zh":{"name":"骨化异常-精神运动发育迟缓综合征"},"tr":{"name":"Ossifikasyon anomalileri-psikomotor gelişme geriliği sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB83.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"873181020"},{"source":"MONDO","code":"0019131","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302826","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"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":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"16086393[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16086393[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-27","source":"16086393[PMID]","terms":[{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006462","label":"Generalized bone demineralization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031207","label":"Hepatic hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003244","label":"Penile hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000586","label":"Shallow orbits","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009237","label":"Short 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009875","label":"Triangular shaped distal phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}