{"orpha":251290,"name":"Parietal foramina with clavicular hypoplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Parietal foramina with cleidocranial dysplasia"],"definition":"A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251290/","orphanet_url":"https://www.orpha.net/en/disease/detail/251290","names":{"fr":{"name":"Foramen pariétal avec hypoplasie claviculaire","synonyms":["Foramen pariétal avec dysplasie cléido-crânienne"],"definition":"Anomalie rare du développement osseux d'origine génétique caractérisée par un foramen pariétal associé à une hypoplasie des clavicules (clavicules anormalement courtes aux extrémités latérales effilées, avec ou sans perte de l'acromion). D'autres caractéristiques peuvent inclure une légère dysmorphie craniofaciale (macrocéphalie, front large et proéminent). Aucune anomalie dentaire n'a été rapportée."},"de":{"name":"Foramina parietalia mit Klavikulahypoplasie","synonyms":["Foramina parietalia mit kleidokranialer Dysplasie"]},"es":{"name":"Foramina parietal con hipoplasia clavicular","synonyms":["Foramina parietal con displasia cleidocraneal"],"definition":"Es un trastorno del desarrollo óseo, genético y poco frecuente, caracterizado por la presencia de ''foramina parietal'' (defecto de osificación simétrico, en ambos lados del cráneo en zona parietal), junto con hipoplasia clavicular (clavículas cortas y anómalas con extremos laterales cónicos, con o sin pérdida del acromion). Otros hallazgos adicionales pueden incluir leve dismorfia craneofacial (macrocefalia, frente ancha y prominente). No se han descrito anomalías dentales asociadas."},"it":{"name":"Foramina parietalia, con ipoplasia della clavicola","synonyms":["Foramina parietalia con disostosi cleidocranica"],"definition":"I foramina parietalia con ipoplasia della clavicola caratterizzano una malattia genetica rara dello sviluppo dell'osso, che presenta foramina parietalia associati ad ipoplasia delle clavicole (anomale, corte, con le estremità laterali affusolate, con o senza perdita dell'acromion). Altri segni clinici sono i dismorfismi facciali sfumati (macrocefalia, fronte ampia e bombata). Non si associa ad anomalie dei denti."},"nl":{"name":"Foramina parietalia met hypoplasie van clavicula","synonyms":["Foramina parietalia met cleidocraniale dysplasie","Foramina parietalia met hypoplasie van sleutelbeen"],"definition":"Een zeldzame, genetische aandoening van botontwikkeling, gekarakteriseerd door foramen parietale, geassocieerd met hypoplasie van sleutelbeenderen (korte, abnormale claviculae met spits toelopende laterale uiteinden, met of zonder verlies van acromion). Mogelijke bijkomende kenmerken zijn onder meer milde craniofaciale dysmorfie (macrocefalie, breed en boller voorhoofd). Er werden geen gebitsafwijkingen gerapporteerd."},"pt":{"name":"Foramina parietal com hipoplasia clavicular","synonyms":["Foramina parietal com displasia cleidocraniana"]},"pl":{"name":"Otwór ciemeniowy z dysplazją obojczykowo-czaszkową","synonyms":["Otwór ciemeniowy z dyzostozą obojczykowo-czaszkową"]},"cs":{"name":"Parietální foramina s kleidokraniální dysplázií","synonyms":["Parietální foramina s kleidokraniální dysostózou"]},"uk":{"name":"Тімяні отвори з гіпоплазією ключиці","synonyms":["Тімяні отвори при клишоногій дисплазії"],"definition":"A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported."},"zh":{"name":"顶骨发育不全伴锁骨发育不良","synonyms":["顶骨孔伴锁骨颅骨发育不良"],"definition":"一种罕见的遗传性骨发育障碍，特征是顶骨孔伴有锁骨发育不良(异常的短锁骨，侧端逐渐变细，伴或不伴肩峰丢失)。其他特征可能包括轻度颅面畸形(巨颅畸形、宽额和前额隆起)。没有牙齿异常的报告。"},"tr":{"name":"Klaviküler hipoplazi ile seyreden parietal foramen","synonyms":["Kleidokraniyal displazi ile seyreden parietal foramina"]}},"xrefs":[{"source":"OMIM","code":"168550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB70.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008198","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566825","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868597","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93451,"name":"Cleidocranial dysplasia and isolated cranial ossification defect","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MSX2","name":"msh homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"7392","ensembl":"ENSG00000120149","omim":"123101","loci":["5q35.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"14571277[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14571277[PMID]"}],"phenotypes":null}