{"orpha":52054,"name":"Craniosynostosis-intracranial calcifications syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Longman-Tolmie syndrome"],"definition":"Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52054/","orphanet_url":"https://www.orpha.net/en/disease/detail/52054","names":{"fr":{"name":"Syndrome de craniosynostose-calcifications intracrâniennes","synonyms":["Syndrome de Longman-Tolmie"],"definition":"Forme de craniosynostose syndromique caractérisée par une craniosynostose, un périmètre crânien inférieur au périmètre crânien moyen des parents, une discrète dysmorphie faciale (crêtes sus-orbitaires proéminentes, proptose et hypoplasie maxillaire légères) et une calcification des noyaux gris centraux. L'évolution neurologique est favorable et l'intelligence normale. Le mode de transmission est autosomique récessif."},"de":{"name":"Kraniosynostose-intrakranielle Kalzifizierung-Syndrom","synonyms":["Longman-Tolmie-Syndrom"],"definition":"Es handelt sich um eine Form der syndromalen Kraniosynostose, die durch Pan-Kraniosynostose, Kopfumfang unterhalb des mittleren Kopfumfangs der Elternteile, milde Gesichtsdysmorphie (markante supraorbitale Grate, milde Proptose und maxilläre Hypoplasie) sowie Verkalkung der Basalganglien gekennzeichnet ist. Die Erkrankung zeigt eine günstige neurologische Prognose mit normaler Intelligenz. Die Vererbung ist wahrscheinlich autosomal-rezessiv."},"es":{"name":"Síndrome de craneosinostosis-calcificaciones intracraneales","synonyms":["Síndrome de Longman-Tolmie"],"definition":"Es una forma de craneosinostosis sindrómica caracterizada por pan-craneosinostosis, perímetro cefálico inferior al perímetro cefálico parental medio, leve dismorfia facial (crestas supraorbitarias prominentes, proptosis discreta e hipoplasia maxilar) y calcificación de los ganglios basales. La enfermedad se asocia a un pronóstico neurológico favorable e inteligencia normal, y sigue un patrón de herencia autosómico recesivo."},"it":{"name":"Craniosinostosi - calcificazioni intracraniche","synonyms":["Sindrome di Longman-Tolmie"],"definition":"La craniosinostosi-calcificazioni intracraniche è una forma di craniosinostosi sindromica caratterizzata da pancraniosinostosi, con circonferenza cranica inferiore a quella media dei genitori, lievi dismorfismi facciali (arcate sopraorbitali prominenti, lieve ptosi e ipoplasia mascellare) e calcificazione dei gangli della base. Lo sviluppo neurologico e l'intelligenza sono normali. La trasmissione è autosomica recessiva."},"nl":{"name":"Craniosynostose - intracraniële calcificaties-syndroom","synonyms":["Syndroom van Longman-Tolmie"],"definition":"Een vorm van syndromale craniosynostose, gekarakteriseerd door pancraniosynostose, hoofdomtrek kleiner dan de gemiddelde hoofdomtrek van beide ouders, milde faciale dysmorfie (prominente supraorbitale randen, milde exoftalmie, en hypoplasie van maxilla) en verkalking van basale ganglia. De ziekte is geassocieerd met een gunstige neurologische uitkomst en een normale intelligentie, en wordt op een autosomaal recessieve manier overgeërfd."},"pt":{"name":"Síndrome de craniossinostose-calcificações intracranianas","synonyms":["Síndrome Longman-Tolmie"]},"pl":{"name":"Kraniosynostoza - zwapnienia wewnątrzczaszkowe","synonyms":["Zespół Longmana i Tolmiego"]},"cs":{"name":"Syndrom zahrnující kraniosynostózu a intrakraniální kalcifikaci","synonyms":["Longmanové-Tolmieho syndrom","Longman-Tolmieho syndrom"]},"uk":{"name":"Синдром краніосиностозу - внутрішньочерепних кальцифікатів","synonyms":["Синдром Лонгмана-Толмі"],"definition":"Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner."},"zh":{"name":"颅缝早闭-颅内钙化综合征","synonyms":["Longman-Tolmie综合征"]},"tr":{"name":"Kraniosinostozis-intrakraniyal kalsifikasyon sendromu","synonyms":["Longman-Tolmie sendromu"]}},"xrefs":[{"source":"OMIM","code":"608432","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012035","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303809","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"14564206[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14564206[PMID]"}],"phenotypes":null}