{"orpha":620139,"name":"Non-syndromic unifrontosphenoidal craniosynostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated unifrontosphenoidal craniosynostosis","Isolated unilateral sphenofrontal suture synostosis","Non-syndromic unilateral frontosphenoidal suture synostosis"],"definition":"A form of non-syndromic unisutural craniosynostosis characterized by the premature fusion of the suture between the frontal and sphenoid bones of the newborn, leading to frontal flattening and asymmetry of the forehead with recession of the supraorbital rim on the fused side of the head.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-620139/","orphanet_url":"https://www.orpha.net/en/disease/detail/620139","names":{"fr":{"name":"Craniosynostose frontosphénoïdale unilatérale non syndromique","synonyms":["Craniosynostose frontosphénoïdale unilatérale isolée"],"definition":"Forme de craniosynostose unisuturaire non syndromique caractérisée par une fusion prématurée de la suture sphéno-frontale du nouveau-né, entraînant un aplatissement et une asymétrie du front avec un recul du bord supraorbitaire du côté de la suture fusionnée."},"de":{"name":"Kraniosynostose, unifrontosphenoidale, nicht-syndromale","synonyms":["Isolierte unifrontosphenoidale Kraniosynostose","Isolierte unilaterale Synostose der Sphenofrontalnaht","Unilaterale frontosphenoidale Nahtsynostose, nicht-syndromale"],"definition":"Eine Form der nicht-syndromalen unisuturalen Kraniosynostose, die durch eine vorzeitige Verschmelzung der Naht zwischen Stirn- und Keilbein bei Neugeborenen gekennzeichnet ist. Dies führt zu einer Abflachung der Stirn sowie zu einer Asymmetrie der Stirn mit Rückbildung des supraorbitalen Randes auf der verschmolzenen Seite des Kopfes."},"es":{"name":"Craneosinostosis unifrontoesfenoidal no sindrómica","synonyms":["Craneosinostosis unifrontoesfenoidal aislada","Sinostosis de sutura esfenofrontal unilateral aislada","Sinostosis de sutura frontoesfenoidal unilateral no sindrómica"],"definition":"Es una forma de craneosinostosis unisutural no sindrómica caracterizada por la fusión prematura de la sutura entre los huesos frontal y esfenoides del recién nacido, lo que produce aplanamiento y asimetría frontal con recesión del borde supraorbitario en el lado fusionado de la cabeza."},"it":{"name":"Craniosinostosi mono-fronto-sfenoidale non sindromica","synonyms":["Craniosinostosi mono-fronto-sfenoidale isolata","Sinostosi isolata monolaterale della sutura sfeno-frontale","Sinostosi monolaterale della sutura fronto-sfenoidale non sindromica"]},"nl":{"name":"Niet-syndromale unilaterale craniosynostose van sutura sphenofrontalis","synonyms":["Geïsoleerde unilaterale craniosynostose van sutura sphenofrontalis","Geïsoleerde unilaterale synostose van sutura sphenofrontalis","Niet-syndromale unilaterale synostose van sutura sphenofrontalis"],"definition":"Een vorm van niet-syndromale unisuturale craniosynostose, gekenmerkt door premature fusie van de naad tussen het voorhoofdsbeen (os frontale) en het wiggenbeen (os sphenoidale) van een neonaat, wat leidt tot een afgeplat en asymmetrisch voorhoofd met recessie van de supraorbitale rand aan de zijde van het hoofd waar de fusie is opgetreden."},"pt":{"name":"Craniossinostose unifrontoesfenoidal não-sindromátca","synonyms":["Craniossinostose unifrontoesfenoidal isolada","Sinostose da sutura esfenofrontal unilateral isolada","Sinostose da sutura frontoesfenoidal unilateral não-sindromática"]},"pl":{"name":"Niesyndromiczna kraniosynostoza obejmująca szew klinowo-czołowy","synonyms":["Isolated unifrontosphenoidal craniosynostosis","Isolated unilateral sphenofrontal suture synostosis","Non-syndromic unilateral frontosphenoidal suture synostosis"],"definition":"Forma niesyndromicznej kraniosynostozy, charakteryzująca się przedwczesnym zrośnięciem się szwu między kością czołową a kością klinową u noworodka, co prowadzi do spłaszczenia i asymetrii czoła z cofnięciem się brzegu nadoczodołowego po stronie zrośniętego szwu."},"cs":{"name":"Nesyndromická unifrontosfenoidální kraniosynostóza","synonyms":["Isolated unifrontosphenoidal craniosynostosis","Isolated unilateral sphenofrontal suture synostosis","Non-syndromic unilateral frontosphenoidal suture synostosis"]},"uk":{"name":"Несиндромальний уніфронтосфеноїдальний краніосиностоз","synonyms":["Ізольований уніфронтосфеноїдальний краніосиностоз","Ізольований односторонній синостоз сфенофронтального шва","Несиндромний односторонній синостоз лобно-скроневого шва"]}},"xrefs":[{"source":"ICD-10","code":"Q75.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB70.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0850075","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680399","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":620096,"name":"Non-syndromic unisutural craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0136,"area":"Worldwide","status":"Validated","source":"29065043[PMID]_ORPHANET"}],"phenotypes":null}