{"orpha":60015,"name":"Enlarged parietal foramina","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Catlin marks","Fenestrae parietales symmetricae","Foramina parietalia permagna","Hereditary cranium bifidum","Symmetric parietal foramina"],"definition":"Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-60015/","orphanet_url":"https://www.orpha.net/en/disease/detail/60015","names":{"fr":{"name":"Lacunes pariétales","synonyms":["Crâne bifide héréditaire","Fenestrae parietales symmetricae","Foramina parietalia permagna","Marques de Catlin","Trous pariétaux"],"definition":"Anomalie rare du développement, l'EPF (pour enlarged parietal foramina) se caractérise par des défauts variables d'ossification intramembraneuse des os pariétaux, pouvant être soit asymptomatique, soit symptomatique (maux de tête, nausées, vomissements, déficience intellectuelle), soit associé à d'autres pathologies."},"de":{"name":"Foramina parietalia, vergrößerte","synonyms":["Catlin-marks","Cranium bifidum, hereditäres","FPP","Fenestrae parietales symmetricae","Foramina parietalia permagna","Foramina parietalia, symmetrische"],"definition":"Die vergrößerte parietale Foramina (Foramina parietalia permagna, FPP) ist ein Entwicklungsdefekt, der durch variable intramembranöse Ossifikationsfehler der parietalen Knochen gekennzeichnet ist, die entweder asymptomatisch, symptomatisch (Kopfschmerzen, Übelkeit, Erbrechen, Intelligenzdefizit) oder mit anderen Pathologien verbunden sind."},"es":{"name":"Foramina parietal ampliada","synonyms":["Cráneo bífido hereditario","Fenestrae parietales symmetricae","Foramina parietal simétrica","Foramina parietalia permagna","Marcas de Catlin"],"definition":"La foramina parietal agrandada (FPA), también denominada simplemente foramina parietal, es un trastorno del desarrollo caracterizado por defectos de tamaño variable en la osificación intramembranosa de los huesos parietales. Puede ser asintomática, sintomática (cefaleas, náuseas, vómitos, discapacidad intelectual) o estar asociada a otras patologías."},"it":{"name":"Forami parietali allargati","synonyms":["Cranio bifido ereditario","Fenestrae parietales symmetricae","Forami parietali simmetrici","Foramina parietalia permagna","Segni di Catlin"],"definition":"I forami parietali allargati (EPF) riguardano un difetto dello sviluppo caratterizzato da difetti dell'ossificazione intramembranosa, di entità variabile, a livello delle ossa parietali, che possono essere asintomatici, sintomatici (cefalee, nausea, vomito, disabilità cognitiva) o associarsi ad altre malattie."},"nl":{"name":"Vergrote foramina parietalia","synonyms":["Catlin-markeringen","Erfelijk cranium bifidum","Fenestrae parietales symmetricae","Foramina parietalia permagna","Symmetrische foramina parietalia"],"definition":"Vergroot pariëtaal foramen (EPF) is een ontwikkelingsstoornis, gekenmerkt door variabele intramembraneuze ossificatiedefecten van de pariëtale botten, die ofwel asymptomatisch, symptomatisch (hoofdpijn, misselijkheid, braken, verstandelijke handicap) of geassocieerd is met andere pathologieën."},"pt":{"name":"Foramina parietal","synonyms":["Foramina parietal permagna"]},"pl":{"name":"Powiększony otwór ciemieniowy","synonyms":["Dziedziczny rozszczep czaszki","Fenestrae parietales symmetricae","Symetryczny otwór ciemieniowy"]},"cs":{"name":"Zvětšení foramina parietalia","synonyms":["Fenestrae parietales symmetricae","Foramina parietalia permagna","Hereditární cranium bifidum","Symetrická foramina parietalia","Catlinovy značky"]},"uk":{"name":"Розширені тімяні отвори","synonyms":["Катлінські знаки","Симетричні тімяні перегородки","Тімяно-скроневий отвір (Foramina parietalia permagna)","Спадковий біфідум черепа","Симетричні тімяні отвори"],"definition":"Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies."},"zh":{"name":"大顶骨孔","synonyms":["增大顶骨孔"]},"tr":{"name":"Genişlemiş parietal foramina","synonyms":["Catlin işaretleri","Kalıtsal kafatası bifidum","Simetrik pariyetal foramina","Foramina parietalia permagna","Fenestra pariyetales simetrika"]}},"xrefs":[{"source":"OMIM","code":"168500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609566","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609597","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB70.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018953","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18953","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868598","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]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]}],"children":[],"genes":[{"symbol":"ALX4","name":"ALX homeobox 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16319823[PMID]","hgnc":"450","ensembl":"ENSG00000052850","omim":"605420","loci":["11p11.2"]},{"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":"16319823[PMID]","hgnc":"7392","ensembl":"ENSG00000120149","omim":"123101","loci":["5q35.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"Europe","status":"Validated","source":"23543411[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"Worldwide","status":"Validated","source":"23543411[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-11","source":"23207976[PMID]_25253662[PMID]_20301307[PMID]_27975139[PMID]","terms":[{"hpo":"HP:0002697","label":"Parietal foramina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000932","label":"Abnormality of the posterior cranial fossa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100809","label":"Scalp tenderness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012721","label":"Venous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012480","label":"Abnormality of cerebral veins","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007385","label":"Aplasia cutis congenita of scalp","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008497","label":"Congenital craniofacial dysostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040197","label":"Encephalomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002762","label":"Multiple exostoses","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002085","label":"Occipital encephalocele","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000894","label":"Short clavicles","frequency":"Very rare (<4-1%)","criteria":null}]}}