{"orpha":519390,"name":"Isolated blepharochalasis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudoepicanthal folds, lacrimal gland prolapse, or ptosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-519390/","orphanet_url":"https://www.orpha.net/en/disease/detail/519390","names":{"fr":{"name":"Blépharochalasis isolé","definition":"Maladie rare de la paupière caractérisée par des épisodes récurrents d'oedème indolore des paupières. Celui-ci se manifeste généralement de manière bilatérale, affecte les paupières supérieures et peut être hypertrophique, entraînant une hernie graisseuse orbitaire à travers une paroi orbitaire affaiblie, ou atrophique, avec une atrophie de la peau redondante des paupières et des poches graisseuses nasales dans la partie supérieure. La formation de plis pseudo-épicanthaux, le prolapsus de la glande lacrymale ou le ptosis sont d'autres manifestations possibles."},"de":{"name":"Blepharochalasis, isolierte","definition":"Eine seltene Erkrankung der Augenlider, die durch wiederkehrende Episoden schmerzloser Lidödeme gekennzeichnet ist. Sie tritt gewöhnlich beidseitig auf, betrifft typischerweise die Oberlider und kann sich in einer hypertrophen Form mit orbitaler Fettherniation aufgrund eines geschwächten Orbitaseptums oder in einer atrophen Form mit Atrophie der überschüssigen Lidhaut und der oberen nasalen Fettpolster manifestieren. Weitere Befunde sind die Bildung von Pseudoepikanthusfalten, Tränenflüssigkeitsprolaps oder Ptosis."},"es":{"name":"Blefarocalasia aislada","definition":"Es una alteración poco frecuente de los párpados caracterizada por episodios recurrentes de edema palpebral indoloro. Por lo general, ocurre de forma bilateral afectando habitualmente a los párpados superiores y puede manifestarse como una forma hipertrófica que resulta en una hernia de grasa orbitaria a través de un tabique orbitario debilitado, o una forma atrófica con atrofia de piel redundante del párpado y almohadillas superiores de grasa nasal. Otros hallazgos son la formación de pliegues pseudoepicánticos, prolapso de la glándula lacrimal o ptosis."},"it":{"name":"Blefarocalasi isolata","definition":"Si tratta di una malattia rara della palpebra, caratterizzata da episodi ricorrenti di edema palpebrale non doloroso. Di solito è bilaterale, interessa le palpebre superiori e può associarsi ad ipertrofia (con la conseguente erniazione del grasso orbitale attraverso un setto orbitale indebolito) oppure all'atrofia della cute ridondante delle palpebre e dei cuscinetti superiori del grasso del naso. Altri segni clinici sono la formazione di pliche pseudo-epicanto, il prolasso delle ghiandole lacrimali e la ptosi."},"nl":{"name":"Geïsoleerde blefarochalase","definition":"Een zeldzame aandoening van ooglid, gekarakteriseerd door recidiverende episodes van pijnloos oedeem van ooglid. De aandoening komt meestal bilateraal voor, treft doorgaans bovenste oogleden, en kan zich manifesteren als een hypertrofische vorm die resulteert in herniatie van orbitaal vet door een verzwakt septum orbitale, of als een atrofische vorm met atrofie van overtollige huid van ooglid en superieure nasale vetkussens. Bijkomende bevindingen zijn vorming van pseudo-epicanthusplooien, dislocatie van traanklier, of ptose."},"pt":{"name":"Blefarocalásia isolada"},"pl":{"name":"Izolowana blefarochalazja"},"cs":{"name":"Izolovaná blefarochaláza"},"uk":{"name":"Ізольований блефарохалязіс","definition":"A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudoepicanthal folds, lacrimal gland prolapse, or ptosis."},"zh":{"name":"孤立性眼睑皮肤松弛症"},"tr":{"name":"İzole blefaroşalazi"}},"xrefs":[{"source":"ICD-10","code":"H02.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"9A06.8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"583527617"},{"source":"MONDO","code":"0033809","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681341","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98567,"name":"Rare eyelid malposition disorder","classifications":[147,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}