{"orpha":42775,"name":"PHACE syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PHACES syndrome","Pascual-Castroviejo syndrome type 2"],"definition":"A rare infantile hemangioma characterized by the association of anomalies of Posterior fossa brain malformations, segmental infantile large facial or neck Hemangiomas, Arterial anomalies (usually of the head and neck or the arteries supplying the brain), aortic coarctation and other Cardiac anomalies, and Eye abnormalities (acronym PHACE). Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-42775/","orphanet_url":"https://www.orpha.net/en/disease/detail/42775","names":{"fr":{"name":"Syndrome PHACE","synonyms":["Syndrome PHACES","Syndrome de Pascual-Castroviejo type 2"],"definition":"Hémangiome infantile rare caractérisé par l'association de malformations cérébrales de la fosse postérieure, d'hémangiomes infantiles segmentaires du visage ou du cou, d'anomalies artérielles (généralement de la tête et du cou ou des artères cérébrales), d'une coarctation de l'aorte et d'autres malformations cardiaques, et d'anomalies oculaires (acronyme PHACE). Dans certains cas, des anomalies sternales sont associées, on parle alors de syndrome PHACES."},"de":{"name":"PHACE-Syndrom","synonyms":["PHACES-Syndrom","Pascual-Castroviejo-Syndrom Typ 2"],"definition":"Ein seltenes infantiles Hämangiom, das durch das Zusammenwirken von Anomalien der hinteren Schädelgrube, segmentalen infantilen großen Hämangiomen im Gesicht oder am Hals, arteriellen Anomalien (in der Regel im Kopf- und Halsbereich oder den das Gehirn versorgenden Arterien), Aortenisthmusstenose und anderen Herzanomalien sowie Augenanomalien gekennzeichnet ist (Akronym PHACE). Manchmal treten auch Anomalien des Brustbeins auf. In diesen Fällen wird das Syndrom als PHACES bezeichnet."},"es":{"name":"Síndrome PHACE","synonyms":["Síndrome de Pascual-Castroviejo tipo 2"],"definition":"Es un hemangioma infantil poco frecuente caracterizado por la asociación de malformaciones cerebrales de la fosa posterior, hemangiomas infantiles segmentarios faciales o cervicales grandes, anomalías arteriales (generalmente de la cabeza y del cuello o de las arterias que irrigan el cerebro), coartación aórtica y otras anomalías cardíacas y oculares (acrónimo PHACE). En ocasiones también se presentan anomalías esternales y, en estos casos, el síndrome se denomina PHACES."},"it":{"name":"Sindrome PHACE","synonyms":["Sindrome di Pascual-Castroviejo, tipo 2"]},"nl":{"name":"PHACE-syndroom","synonyms":["PHACES-syndroom","Syndroom van Pascual-Castroviejo type 2"],"definition":"Een zeldzaam infantiel hemangioom, gekenmerkt door de associatie van anomalieën van de achterste schedelgroeve (fossa posterior), segmentale infantiele grote hemangiomen in aangezicht of nek/hals, arteriële anomalieën (meestal van hoofd en hals/nek of slagaders die de hersenen bevoorraden), aortacoarctatie en andere hartanomalieën, en oogafwijkingen (in het Engels geeft dit het acroniem PHACE). Soms zijn ook anomalieën van sternum aanwezig, en in deze gevallen wordt het syndroom PHACES genoemd."},"pt":{"name":"Síndrome PHACE","synonyms":["Síndrome PHACES","Síndrome Pascual-Castroviejo tipo 2"],"definition":"PHACE é um acrónimo usado para descrever uma síndrome caraterizada pela associação de malformações da fossa cerebral posterior, hemangiomas faciais grandes, anomalias anatómicas das artérias cerebrais, coartação da aorta e outras anomalias cardíacas, e anomalias oculares. Por vezes, também estão presentes anomalias do esterno e, nestes casos, a síndrome é mencionada como PHACES. Recentemente, foram acrescentadas duas manifestações ao espectro clínico da síndrome de PHACE: estenose dos vasos da base do crânio e dilatações segmentais longitudinais da artéria carótida interna."},"pl":{"name":"Zespół PHACE","synonyms":["Zespół Pascuala i Castroviejo typu 2"]},"cs":{"name":"PHACE syndrom","synonyms":["Pascual-Castroviejův syndrom, typ 2"]},"uk":{"name":"Синдром PHACE","synonyms":["Синдром Паскуаля-Кастровєхо, тип 2","Синдром PHACES"],"definition":"PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery."},"zh":{"name":"PHACE综合征","synonyms":["Pascual-Castroviejo 综合征2型"]},"tr":{"name":"PHACE sendromu","synonyms":["PHACES sendromu","Pascual-Castroviejo sendromu tip 2"]}},"xrefs":[{"source":"OMIM","code":"606519","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q28.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1825849023"},{"source":"MONDO","code":"0011676","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3698479","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8338","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068032","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1564,"name":"Dandy-Walker malformation-facial hemangioma syndrome","status":"inactive"},{"type":"Moved to","orpha":2124,"name":"Cavernous hemangiomas of face-supraumbilical midline raphe syndrome","status":"inactive"},{"type":"Moved to","orpha":3195,"name":"Sternal malformation-vascular dysplasia syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":371436,"name":"Genetic neurovascular malformation","classifications":[156]},{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":102006,"name":"Neurovascular malformation","classifications":[181]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":459543,"name":"Rare genetic vascular tumor","classifications":[156]},{"orpha":210589,"name":"Rare infantile hemangioma","classifications":[147,198,202]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"26564079[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26564079[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"26469095[PMID]","terms":[{"hpo":"HP:0009145","label":"Abnormal cerebral artery morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002408","label":"Cerebral arteriovenous malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005344","label":"Abnormality of the carotid arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000315","label":"Abnormality of the orbital region","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100028","label":"Ectopic thyroid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100719","label":"Lens coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007797","label":"Retinal vascular malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000647","label":"Sclerocornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Occasional (29-5%)","criteria":null}]}}