{"orpha":141189,"name":"Cerebrofacial arteriovenous metameric syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CAMS"],"definition":"A rare, nonhereditary, complex cerebrofacial vascular malformation characterized by multiple ipsilateral arteriovenous malformations (AVMs) with a metameric distribution, affecting various territories of the face with corresponding areas of the brain. The spectrum is highly variable with three types described according to lesion distribution: CAMS 1 derives from the medial prosencephalon with concurrent involvement of hypothalamus, nose, forehead; CAMS 2 arises from the lateral prosencephalon and involves basal ganglia, optic nerve and retina and maxillo-facial region; CAMS 3 derives from the rhombencephalon and involves cerebellum and mandible.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141189/","orphanet_url":"https://www.orpha.net/en/disease/detail/141189","names":{"fr":{"name":"Syndrome métamérique artérioveineux cérébro-facial","synonyms":["CAMS"],"definition":"Groupe de malformations vasculaires cérébro-faciales complexes, rares et non héréditaires, caractérisées par de multiples malformations artério-veineuses (MAV) ipsilatérales de distribution métamérique, affectant diverses zones du visage et des zones correspondantes du cerveau. Le spectre est très variable. En fonction de la distribution des lésions, trois types ont été décrits : le syndrome métamérique artério-veineux cérébro-facial type 1 (SMAC 1) prenant naissance dans le prosencéphale médian et impliquant l'hypothalamus, la zone du nez et du front ; le SMAC 2 prenant naissance dans prosencéphale latéral et impliquant les noyaux gris centraux, le nerf optique et la rétine, ainsi que la région maxillo-faciale ; le SMAC 3 prenant naissance dans le rhombencéphale et impliquant le cervelet et la mandibule."},"de":{"name":"Zerebrofaziales arteriovenöses metameres Syndrom","definition":"Eine Gruppe komplexer zerebrofazialer vaskulärer Fehlbildungen, die sich durch multiple, ipsilaterale arteriovenöse Fehlbildungen (AVMs) mit segmentaler Verteilung auszeichnen. Sie betreffen verschiedene Gesichtsbereiche sowie entsprechende Hirnareale. Das Spektrum ist sehr variabel, wobei je nach Verteilung der Läsionen drei Typen beschrieben werden: CAMS1 entspringt dem medialen Prosenzephalon und betrifft Hypothalamus, Nase und Stirn; CAMS2 entspringt dem lateralen Prosenzephalon und betrifft Basalganglien, Sehnerv und Netzhaut sowie die Oberkiefer-Gesichtsregion; CAMS3 entspringt dem Rhombenzephalon und betrifft Kleinhirn und Unterkiefer."},"es":{"name":"Síndrome arteriovenoso cerebrofacial metamérico","synonyms":["CAMS"],"definition":"Es una malformación vascular cerebrofacial compleja, poco frecuente y no hereditaria, caracterizada por múltiples malformaciones arteriovenosas (MAV) ipsilaterales con una distribución metamérica, que afectan a varios territorios de la cara con áreas correspondientes del cerebro. El espectro es muy variable y se describen tres tipos según la distribución de la lesión: el síndrome metamérico arteriovenoso cerebrofacial (SMAC) 1 se deriva del prosencéfalo medial con afectación concurrente del hipotálamo, la nariz y la frente; el SMAC2 surge del prosencéfalo lateral y afecta a los ganglios basales, al nervio óptico y a la retina, y a la región maxilofacial; y el SMAC3 deriva del rombencéfalo y afecta al cerebelo y a la mandíbula."},"it":{"name":"Sindrome metamerica arterovenosa cerebrofacciale","definition":"Si tratta di un gruppo di malformazioni arterovenose rare, caratterizzate da anomalie vascolari monolaterali con distribuzione metamerica, che interessano la regione craniofacciale. Si conoscono alcuni sottotipi, che si differenziano per la distribuzione delle lesioni: la sindrome metamerica arterovenosa cerebrofacciale (CAMS) 1 (gruppo prosencefalico mediano), che interessa l'ipotalamo e la regione nasale; la sindrome di Wyburn-Mason (gruppo prosencefalico laterale), che interessa il lobo occipitale, il talamo e la mascella; e la CAMS 3 (gruppo romboencefalico laterale), che interessa il cervelletto, il ponte e la mandibola."},"nl":{"name":"Cerebrofaciaal arterioveneus metamerisch syndroom","synonyms":["CAMS"],"definition":"Een zeldzame, niet-erfelijke, complexe cerebrofaciale vasculaire malformatie, gekenmerkt door multipele ipsilaterale arterioveneuze malformaties (AVM's) met een metamere distributie, die verschillende delen van het aangezicht en overeenkomstige delen van de hersenen aantasten. Het spectrum is zeer variabel met drie types die worden beschreven naargelang de distributie van de laesie: CAMS 1 is afgeleid van mediaal prosencephalon met gelijktijdige betrokkenheid van hypothalamus, neus en voorhoofd; CAMS 2 ontstaat uit lateraal prosencephalon en treft basale ganglia, oogzenuw en netvlies, en het maxillofaciale gebied; CAMS 3 ontstaat uit rhombencefalon en toont betrokkenheid van cerebellum en mandibula."},"pt":{"name":"Síndrome metamérico arteriovenoso cerebrofacial","definition":"Um grupo de malformações vasculares cerebrofaciais complexas, raras e não hereditárias, caracterizadas por múltiplas malformações arteriovenosas ipsilaterais (MAVs) com distribuição metamérica, afetando vários territórios da face com áreas correspondentes do cérebro. O espectro é altamente variável, com três tipos descritos de acordo com a distribuição da lesão: CAMS1 deriva do prosencéfalo medial com envolvimento concomitante do hipotálamo, nariz e fronte; CAMS2 surge do prosencéfalo lateral e envolve gânglios da base, nervo óptico e retina e região maxilofacial; CAMS3 deriva do rombencéfalo e envolve cerebelo e mandíbula."},"pl":{"name":"Zespół tętniczo-żylnej metamerii mózgowo-twarzowej","synonyms":["CAMS"]},"cs":{"name":"Cerebrofaciální arteriovenózní metamerické syndromy","synonyms":["CAMS"]},"uk":{"name":"Цереброфаціальний артеріовенозний метамерний синдром","synonyms":["CAMS"],"definition":"A group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving the hypothalamus and nasal region, Wyburn-Mason syndrome (lateral prosencephalic group) involving the occipital lobe, thalamus, and maxilla, and CAMS 3 (lateral rhombencephalic group) involving the cerebellum, pons, and mandible."},"zh":{"name":"大脑面部动静脉畸形综合征","synonyms":["CAMS"],"definition":"一组罕见的动静脉畸形，其特征是累及颅面部的节段性分布单侧血管畸。根据病变的分布，分为不同亚型，包括累及下丘脑和鼻部的脑面动静脉节段性综合征（CAMS）1（内侧前脑组），）累及枕叶、丘脑和上颌骨的Wyburn-Mason综合征（外侧前脑组），累及小脑、脑桥和下颌骨的CAMS3（外侧菱脑组）。"},"tr":{"name":"Serebrofasiyal arteriyovenöz metamerik sendrom","synonyms":["CAMS"]}},"xrefs":[{"source":"ICD-10","code":"Q28.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1402414905"},{"source":"MONDO","code":"0015405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3839265","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":53719,"name":"OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2","status":"inactive"},{"type":"Referred to","orpha":141194,"name":"OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1","status":"inactive"},{"type":"Referred to","orpha":141199,"name":"OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":715757,"name":"Metameric fast-flow vascular malformation","classifications":[147,181,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}