{"orpha":98606,"name":"Syndromic orbital border hypoplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Urrets-Zavalia syndrome"],"definition":"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98606/","orphanet_url":"https://www.orpha.net/en/disease/detail/98606","names":{"fr":{"name":"Hypoplasie syndromique du rebord orbitaire","synonyms":["Rebord orbitaire hypoplasique","Syndrome d'Urrets-Zavalia"],"definition":"Maladie rare observée à ce jour dans deux familles, caractérisée par une agénésie du rebord orbitaire, des anomalies variables des voies lacrymales, une hypoplasie de la peau des paupières et du tarse, ainsi qu'une atrésie du canal nasolacrimal."},"de":{"name":"Syndromale Hypoplasie der Orbitawand","synonyms":["Urrets-Zavalia-Syndrom"],"definition":"Die syndromale Hypoplasie der Orbitawand ist eine seltene Krankheit, die bisher in 2 Familien beschrieben wurde. Sie ist gekennzeichnet durch Agenesie der Orbitawand, unterschiedliche Defekte der Tränenpassage, Hypoplasie der Lidaut und Tarsalplatten und Atresie des Ductus nasolacrimalis."},"es":{"name":"Hipoplasia sindrómica del borde orbitario","definition":"La hipoplasia sindrómica del borde orbitario es un trastorno poco frecuente, observado hasta la fecha en dos familias, que se caracteriza por agenesia del margen orbitario, defectos variables de los canales lagrimales, hipoplasia de la piel palpebral y de las placas tarsales y atresia del conducto nasolagrimal."},"it":{"name":"Ipoplasia sindromica del bordo orbitario","synonyms":["Sindrome di Urrets-Zavalia"],"definition":"L'ipoplasia sindromica del bordo orbitario è un raro difetto descritto finora in due famiglie e caratterizzato da agenesia del margine orbitario, associato a difetti delle vie lacrimali, ipoplasia della cute delle palpebre e dei piatti tarsali, e atresia del dotto nasolacrimale."},"nl":{"name":"Syndromale hypoplasie van oogkasrand","synonyms":["Syndroom van Urrets-Zavalia"],"definition":"Een zeldzame aandoening, tot op heden geobserveerd bij twee families, en gekenmerkt door agenesie van rand van orbita, variabele defecten van traanafvoersysteem, hypoplasie van huid van ooglid en tarsale plaat, en atresie van neustraankanaal."},"pt":{"name":"Hipoplasia sindromática do bordo orbital"},"pl":{"name":"Syndromiczna hipoplazja brzegu oczodołu","synonyms":["Zespół Urretsa i Zavalia"]},"cs":{"name":"Syndromická hypoplázie okraje orbity","synonyms":["Urrets-Zavaliův syndrom"]},"uk":{"name":"Синдром гіпоплазії орбітального краю","synonyms":["Синдром Уррета-Завалія"],"definition":"Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct."},"zh":{"name":"综合征性眼眶缘发育不全","synonyms":["Urrets-Zavalia综合征"],"definition":"眼眶边缘发育不全综合征是一种罕见的疾病，目前已在两个家族中被观察到，其特征是眼眶边缘发育不全，泪道不同程度的缺损，眼睑皮肤和睑板发育不良以及鼻泪管闭锁。"},"tr":{"name":"Sendromik orbital sınır hipoplazisi","synonyms":["Urrets-Zavalia sendromu"]}},"xrefs":[{"source":"OMIM","code":"165600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q10.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA14.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008138","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273912","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519274,"name":"Syndromic lacrimal system disorder","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"14359373[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14359373[PMID]"}],"phenotypes":null}