{"orpha":1253,"name":"Ascher syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Blepharochalasis-double lip syndrome"],"definition":"A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1253/","orphanet_url":"https://www.orpha.net/en/disease/detail/1253","names":{"fr":{"name":"Syndrome d'Ascher","synonyms":["Syndrome de blépharochalasis-lèvre double"],"definition":"Syndrome très rare caractérisé par l'association d'un blépharochalasis, d'une lèvre double et d'un goitre non toxique (observé dans 10 à 50&nbsp;% des cas), bien que la présence de ces trois signes au début de la maladie soit rare. L'hypertrophie de la zone muqueuse de la lèvre avec persistance du sillon horizontal entre les zones cutanées et muqueuses donne un aspect de lèvre double, la lèvre supérieure étant plus souvent touchée. Apparaissant autour de la puberté et présent dans 80&nbsp;% des cas, le blépharochalasis, ou épisodes d'oedème des paupières, est généralement bilatéral et peut rarement entraîner des troubles de la vision et d'autres complications oculaires. La plupart des cas sont sporadiques, mais des cas familiaux (avec une possible transmission autosomique dominante) ont également été rapportés."},"de":{"name":"Ascher-Syndrom","synonyms":["Blepharochalasie-Doppelte Lippe-Syndrom"]},"es":{"name":"Síndrome de Ascher","synonyms":["Blefarocalasia - labio doble","Blefarocalasia-labio doble","Síndrome de blefarocalasia-labio doble"],"definition":"Es un síndrome muy poco frecuente caracterizado por una combinación de blefarocalasia, doble labio y bocio (crecimiento de la glándula tiroides) con función normal (presente en el 10-50% de los casos), aunque la ocurrencia de los tres signos en la presentación es poco frecuente. La hipertrofia de la zona mucosa del labio, con persistencia del surco horizontal entre las zonas cutánea y mucosa, da una apariencia de doble labio, con afectación más frecuente del labio superior. La blefarocalasia, o edema palpebral episódico, que aparece alrededor de la pubertad, sucede en el 80% de los casos y es, por lo general, bilateral; excepcionalmente, puede conllevar problemas de visión y otras complicaciones oculares. La mayoría de los casos son esporádicos, pero también se han descrito casos familiares (con un posible patrón de herencia autosómico dominante)."},"it":{"name":"Sindrome di Ascher","synonyms":["Sindrome blefarocalasi-labbro doppio"],"definition":"La sindrome di Ascher è una malattia molto rara, caratterizzata dall'associazione tra blefarocalasi, labbro doppio e gozzo tiroideo non tossico (presente nel 10-50% dei casi); è rara la concomitanza dei tre segni all'esordio. L'ipertrofia della mucosa del labbro con persistenza del solco orizzontale tra la cute e la mucosa conferisce un aspetto di labbro doppio, spesso con un interessamento del labbro superiore. La blefarocalasi, o edema episodico della palpebra, esordisce durante la pubertà ed è presente nell'80% dei casi; di solito è bilaterale e raramente esita nella compromissione della vista o in altre complicanze oculari. La maggior parte dei casi è sporadica, ma sono stati descritti anche casi familiari, per i quali è stata ipotizzata una trasmissione autosomica dominante."},"nl":{"name":"Syndroom van Ascher","synonyms":["Blefarochalasie - dubbele lip-syndroom"],"definition":"Een zeer zeldzaam syndroom, gekarakteriseerd door een combinatie van blefarochalase, dubbele lip, en niet-toxische uitzetting van de schildklier (waargenomen in 10-50% van de gevallen), hoewel het voorkomen van alle drie de tekenen bij de presentatie niet gangbaar is. Hypertrofie van de mucosale zone van de lip met persistentie van de horizontale sulcus tussen cutane en mucosale zones geeft het uiterlijk van een dubbele lip, met frequente betrokkenheid van de bovenlip. Blefarochalase, of episodisch oedeem van ooglid, verschijnt rond de puberteit, is aanwezig in 80% van de gevallen, is meestal bilateraal, en kan zelden leiden tot visuele beperking en andere oculaire complicaties. De meeste gevallen zijn sporadisch, maar er werden eveneens familiale gevallen (met mogelijk een autosomaal dominant overervingspatroon) gerapporteerd."},"pt":{"name":"Síndrome Ascher"},"pl":{"name":"Zespół Aschera","synonyms":["Zespół zwiotczenia powiek i podwójnej wargi"]},"cs":{"name":"Ascherův syndrom","synonyms":["Blepharochalasis-double lip syndrom","Syndrom zahrnující blefarochalázu a dvojitý ret"]},"uk":{"name":"Синдром Ашера","synonyms":["Синдром блефарохалазії - подвійної губи"],"definition":"A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported."},"zh":{"name":"Ascher综合征","synonyms":["眼睑皮肤松弛-双唇综合征"]},"tr":{"name":"Ascher sendromu","synonyms":["Blefarokalazis-çift dudak sendromu"]}},"xrefs":[{"source":"OMIM","code":"109900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1063203220"},{"source":"MONDO","code":"0007198","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562742","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339085","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"201","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]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":98567,"name":"Rare eyelid malposition disorder","classifications":[147,189]},{"orpha":522528,"name":"Rare genetic eyelid malposition disorder","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"8994475[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000177","label":"Abnormality of upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012724","label":"Upper eyelid edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}