{"orpha":157832,"name":"Craniorhiny","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157832/","orphanet_url":"https://www.orpha.net/en/disease/detail/157832","names":{"fr":{"name":"Craniorhinie","definition":"Syndrome malformatif de dysplasie frontonasale caractérisé par une craniosynostose de type oxycéphalie, un nez large et des narines antéversées, un hirsutisme à la base du nez, une agénésie du canal lacrymonasal et des kystes nasolabiaux symétriques et bilatéraux sur la lèvre supérieure. Un hypertélorisme peut aussi être observé. Aucun cas n'a été décrit dans la littérature depuis 1991."},"de":{"name":"Kraniorhinie","definition":"Ein seltenes Fehlbildungssyndrom, das gekennzeichnet ist durch einen oxyzephalen Schädel mit Kraniosynostose, eine breite Nase mit antevertierten Nasenlöchern, Hirsutismus an der Nasenbasis, Agenesie der Tränenwege und bilaterale, symmetrische Nasolabialzysten an der Oberlippe. Zusätzliche Merkmale können Hypertelorismus sein. Seit 1991 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Craniorrinia","definition":"Es un síndrome malformativo poco frecuente de displasia frontonasal caracterizado por un cráneo oxicefálico con craneosinostosis, nariz ancha con narinas antevertidas, hirsutismo en la base de la nariz, agenesia de los conductos nasolagrimales y quistes nasolabiales bilaterales y simétricos en el labio superior. Otros hallazgos adicionales pueden incluir hipertelorismo. No ha habido más casos descritos en la literatura desde 1991."},"it":{"name":"Craniorinia","definition":"È una displasia malformativa frontonasale rara, caratterizzata da cranio ossicefalo con craniosinostosi, naso ampio con narici anteverse, irsutismo alla base del naso, agenesia dei dotti nasolacrimali e cisti nasolabiali simmetriche bilaterali sul labbro superiore. I pazienti possono presentare ipertelorismo. Non sono stati descritti nuovi casi dopo il 1991."},"nl":{"name":"Craniorhinie","definition":"Een zeldzaam malformatiesyndroom met frontonasale dysplasie dat gekarakteriseerd wordt door een oxycefale schedel met craniosynostose, brede neus met anteversie van de neusgaten, hirsutisme aan de basis van de neus, agenesie van de traanbuizen, en bilaterale, symmetrische nasolabiale cysten op de bovenlip. Een mogelijk bijkomend kenmerk is hypertelorisme. Sinds 1991 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Craniorinia"},"pl":{"name":"Kraniorynia"},"cs":{"name":"Kraniorhinie"},"uk":{"name":"Краніорхіни","definition":"A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991."},"zh":{"name":"额鼻发育不良综合征","definition":"一种罕见的额鼻发育不良畸形综合征，其特征是颅缝早闭的尖头颅骨，鼻孔前倾的宽鼻，鼻基底多毛，鼻泪管发育不全和上唇两侧对称性鼻唇囊肿。其他特征可能包括眼距过宽。自1991年以来，还未有更新的文献报道。"},"tr":{"name":"Kraniyorini"}},"xrefs":[{"source":"OMIM","code":"123050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q30.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"853619848"},{"source":"MONDO","code":"0007398","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565144","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852501","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":250,"name":"Frontonasal dysplasia","classifications":[147,156,199]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"1896543[PMID]_1897582[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1896543[PMID]_1897582[PMID]"}],"phenotypes":null}