{"orpha":3328,"name":"Absent tibia-polydactyly-arachnoid cyst syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Holmes-Collins syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by absence/hypoplasia of tibia, postaxial polydactyly of the hands, pre and /or postaxial polydactyly of the feet and retrocerebellar arachnoid cyst. Bowing of the radius and ulna and syndactyly may also be present. Additional clinical features may include ventriculomegaly, cleft lip, diaphragmatic agenesis and malrotation of the colon. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3328/","orphanet_url":"https://www.orpha.net/en/disease/detail/3328","names":{"fr":{"name":"Syndrome de tibia absent-polydactylie-kyste arachnoïdien","synonyms":["Syndrome de Holmes-Collins"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une absence/une hypoplasie du tibia, une polydactylie post-axiale des mains, une polydactylie pré et/ou post-axiale des pieds et un kyste arachnoïdien rétrocérébelleux. Une courbure du radius et de l'ulna et une syndactylie peuvent également être présentes. D'autres signes cliniques peuvent inclure une ventriculomégalie, une fente labiale, une agénésie du diaphragme et une malrotation intestinale. Aucun nouveau cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"Tibiaaplasie-Polydaktylie-arachnoide Zysten-Syndrom","synonyms":["Holmes-Collins-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch das Fehlen/Hypoplasie der Tibia, postaxiale Polydaktylie der Hände, prä- und/oder postaxiale Polydaktylie der Füße und retrozerebelläre Arachnoidalzyste gekennzeichnet ist. Eine Verkrümmung der Speiche und der Elle sowie eine Syndaktylie können ebenfalls vorhanden sein. Zu den weiteren klinischen Merkmalen gehören Ventrikulomegalie, Lippenspalte, Zwerchfell-Agenesie und Malrotation des Dickdarms. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de tibia ausente-polidactilia-quiste aracnoideo","definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas poco frecuente caracterizado por ausencia/hipoplasia de tibia, polidactilia postaxial de las manos, polidactilia pre- y/o postaxial de los pies y quiste aracnoideo retrocerebeloso. También puede asociar incurvación del radio y del cúbito, así como sindactilia. Otras características clínicas incluyen ventriculomegalia, labio hendido, agenesia diafragmática y malrotación del colon. No se han descrito más casos en la literatura desde 1995."},"it":{"name":"Agenesia della tibia - polidattilia - cisti aracnoidea","synonyms":["Sindrome di Holmes-Collins"]},"nl":{"name":"Afwezige tibia - polydactylie - arachnoïdale cyste-syndroom","synonyms":["Syndroom van Holmes-Collins"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door afwezigheid/hypoplasie van scheenbeen, postaxiale polydactylie van de handen, pre- en/of postaxiale polydactylie van de voeten, en retrocerebellaire arachnoïdale cyste. Kromstand van radius en ulna, en syndactylie kunnen ook aanwezig zijn. Mogelijke bijkomende klinische kenmerken zijn onder meer ventriculomegalie, gespleten lip, agenesie van diafragma, en malrotatie van colon. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de tíbia ausente-polidactilia-quisto aracnóideu","synonyms":["Síndrome Holmes-Collins"],"definition":"O síndrome tíbia ausente - polidactilia - cisto aracnóide é uma constelação muito rara de múltiplas anomalias, incluindo ausência ou hipoplasia da tíbia."},"pl":{"name":"Brak kości piszczelowej - polidaktylia - torbiel pajęczynówki","synonyms":["Zespół Holmesa i Collinsa"]},"cs":{"name":"Syndrom zahrnující chybějící tibie, polydaktylii a arachnoidální cystu","synonyms":["Holmesův-Collinsův syndrom","Holmes-Collinsův syndrom"]},"uk":{"name":"Синдром відсутності великогомілкової кістки-полідактилії-арахноїдальної кісти","synonyms":["Синдром Холмса-Коллінза"],"definition":"Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia."},"zh":{"name":"胫骨缺如-多指(趾)畸形-蛛网膜囊肿综合征","synonyms":["Holmes-Collins综合征"]},"tr":{"name":"Tibia yokluğu-polidaktili-araknoid kist sendromu","synonyms":["Holmes-Collins sendromu"]}},"xrefs":[{"source":"OMIM","code":"601027","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010981","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536918","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518567","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5210","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8592337[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8592337[PMID]"}],"phenotypes":null}