{"orpha":1661,"name":"X-linked corneal dermoid","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Corneal dystrophy epithelial-short stature syndrome","Guízar Vázquez-Luengas-Muñoz syndrome"],"definition":"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1661/","orphanet_url":"https://www.orpha.net/en/disease/detail/1661","names":{"fr":{"name":"Dermoïde cornéen lié à l'X","synonyms":["Syndrome de Guízar Vázquez-Luengas-Muñoz","Syndrome de dermoïdes cornéens-petite taille"],"definition":"Le dermoïde cornéen lié à l'X est une tumeur cornéenne, congénitale et bénigne, extrêmement rare. Elle se caractérise par l'opacification bilatérale de la cornée, avec des couches superficielles grisâtres et des plaques blanchâtres à surface irrégulière, ainsi que de fins vaisseaux sanguins recouvrant la cornée centrale, et des bords cornéens périphériques intacts. Il n'y a pas d'autre anomalie oculaire ou systémique. Le mode de transmission décrit chez la famille affectée est consistant avec une transmission liée à l'X."},"de":{"name":"Korneales Dermoid, X-chromosomales","synonyms":["Epitheliale Hornhautdystrophie - Kleinwuchs","Guízar-Vázquez-Luengas-Muñoz-Syndrom"],"definition":"Das X-chromosomale Hornhautdermoid (X-CND) ist ein äußerst seltener, gutartiger, angeborener Hornhauttumor. Er ist gekennzeichnet durch eine beidseitige Trübung der Hornhaut mit oberflächlichen gräulichen Schichten und unregelmäßigen erhabenen weißlichen Plaques sowie feinen Blutgefäßen, die die zentrale Hornhaut bedecken mit intakten peripheren Hornhauträndern. Es werden keine anderen okulären oder systemischen Anomalien festgestellt. Das in der betroffenen Familie beschriebene Vererbungsmuster ist konsistent mit einer X-chromosomalen Vererbung."},"es":{"name":"Dermoide corneal ligado al cromosoma X","synonyms":["Distrofia corneal epitelial-talla baja","Síndrome de Guízar-Vázquez-Luengas-Muñoz"],"definition":"El dermoide corneal ligado al X (DCN-X) es un tumor corneal congénito benigno extremadamente infrecuente caracterizado por opacificación bilateral de la córnea con capas superficiales grisáceas y placas blanquecinas irregulares elevadas, así como finos vasos sanguíneos cubriendo la córnea central y bordes corneales periféricos intactos. No se ha observado ninguna otra anomalía ocular o sistémica. El patrón de herencia descrito en las familias afectadas es consistente con un modo de transmisión ligado al X."},"it":{"name":"Dermoide corneale legato all'X","synonyms":["Distrofia corneale epiteliale - bassa statura","Sindrome di Guízar-Vázquez-Luengas-Muñoz"],"definition":"Il dermoide corneale legato all'X (X-CND) è un tumore corneale benigno congenito molto raro, caratterizzato dall'opacamento bilaterale della cornea con strati superficiali grigiastri e placche biancastre irregolari e prominenti, capillari fini che ricoprono il centro della cornea e bordi periferici della cornea intatti. Non sono state descritte altre anomalie oculari o sistemiche. Nella famiglia affetta è stata osservata una modalità di trasmissione legata all'X."},"nl":{"name":"X-gebonden corneaal dermoïd","synonyms":["Epitheliale corneadystrofie - kleine gestalte-syndroom","Syndroom van Guízar-Vázquez-Luengas-Muñoz","X-gebonden dermoïdcyste van hoornvlies"],"definition":"Een uiterst zeldzame, goedaardige, congenitale tumor van hoornvlies, gekarakteriseerd door bilaterale troebeling van cornea met oppervlakkige grijsachtige lagen en onregelmatig verheven witachtige plaques, alsook fijne bloedvaten die de centrale cornea bedekken, en intacte perifere randen van hoornvlies. Er werden geen andere oculaire of systemische afwijkingen opgemerkt. Het overervingspatroon dat werd beschreven voor de getroffen familie is consistent met X-gebonden overerving."},"pt":{"name":"Dermóide da córnea ligado ao X","synonyms":["Distrofia epitelial da córnea-baixa estatura","Síndrome Guizar-Vasquez-Luengas"]},"pl":{"name":"Skórzak rogówki sprzężony z chromosomem X","synonyms":["Nabłonkowa dystrofia rogówki - niski wzrost","Zespół Guízar-Vázqueza i Luengas-Muñoza"]},"cs":{"name":"X-vázaný dermoid rohovky","synonyms":["Syndrom zahrnující epiteliální dystrofii rohovky a malý vzrůst","Guízar Vázquezův-Luengas Muñozův syndrom","Guízar Vázquez-Luengas Muñozův syndrom"]},"uk":{"name":"Х-зчеплений дермоїд рогівки","synonyms":["Синдром епітеліальної дистрофії рогівки - низького зросту","Синдром Гісара Васкеса-Луенгаса-Муньоса"],"definition":"X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission."},"zh":{"name":"X连锁角膜皮样瘤","synonyms":["角膜上皮营养不良-身材矮小综合征"]},"tr":{"name":"X'e bağlı korneal dermoid","synonyms":["Guízar Vázquez-Luengas-Muñoz sendromu","Korneal distrofi epitel-kısa boy sendromu"]}},"xrefs":[{"source":"OMIM","code":"304730","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F36.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"118076382"},{"source":"MONDO","code":"0010579","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535376","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844671","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2580","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"11594343[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11594343[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}