{"orpha":2832,"name":"Short tarsus-absence of lower eyelashes syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lopes-Gorlin syndrome"],"definition":"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2832/","orphanet_url":"https://www.orpha.net/en/disease/detail/2832","names":{"fr":{"name":"Syndrome de tarses palpébraux courts-absence de cils inférieurs","synonyms":["Syndrome de Lopes-Gorlin"],"definition":"Le syndrome paupières anormales - absence de cils inférieurs est un syndrome très rare associant des tarses palpébraux courts et fins des paupières, supérieure et inférieure, et l'absence de cils sur la paupière inférieure."},"de":{"name":"Syndrom des kurzen Tarsus mit fehlenden unteren Augenwimpern","synonyms":["Lopes-Gorlin-Syndrom"],"definition":"Das Syndrom mit kurzem Tarsus und fehlenden unteren Wimpern ist sehr selten und gekennzeichnet durch die Kombination eines dünnen und kurzen oberen und unteren Tarsus und das Fehlen der unteren Wimpern."},"es":{"name":"Síndrome de párpado superior anómalo-ausencia de pestañas","synonyms":["Síndrome de Lopes-Gorlin"],"definition":"Es un síndrome muy poco frecuente caracterizado por la asociación de los tarsos palpebrales superior e inferior finos y cortos, y por la ausencia de pestañas inferiores."},"it":{"name":"Anomalia della palpebra superiore - assenza delle ciglia","synonyms":["Sindrome di Lopes-Gorlin"]},"nl":{"name":"Korte tarsus - afwezigheid van onderste wimpers-syndroom","synonyms":["Korte voetwortel - afwezigheid van onderste wimpers-syndroom","Syndroom van Lopes-Gorlin"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door de associatie van dunne en korte bovenste en onderste voetwortels en afwezigheid van onderste wimpers."},"pt":{"name":"Síndrom de tarso curto-ausência das pestanas inferiores","synonyms":["Síndrome Lopes-Gorlin"],"definition":"Tarso curto - ausência das pestanas inferiores é uma síndrome muito rara caracterizada pela associação de tarso superior e inferior fino e curto e ausência das pestanas inferiores."},"pl":{"name":"Krótki staw skokowy - brak dolnych rzęs","synonyms":["Zespół Lopesa i Gorlina"]},"cs":{"name":"Syndrom zahrnující krátké tarzální ploténky a absenci dolních očních řas","synonyms":["Lopesové-Gorlinův syndrom","Lopes-Gorlinův syndrom"]},"uk":{"name":"Синдром короткого тарсуса - відсутності нижніх вій","synonyms":["Синдром Лопеса-Горліна"],"definition":"Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes."},"zh":{"name":"短跗骨-下睫毛缺失综合征","synonyms":["Lopes-Gorlin综合征"]},"tr":{"name":"Kısa tarsus-alt kirpik yokluğu sendromu","synonyms":["Lopes-Gorlin sendromu"]}},"xrefs":[{"source":"OMIM","code":"600269","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010855","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537036","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838328","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"296","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":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"7889642[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7889642[PMID]"}],"phenotypes":null}