Blepharophimosis - epicanthus inversus - ptosis (Q86152): Difference between revisions
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A síndrome da blefarofimose-ptose-epicanto inverso (BPES) é uma condição genética rara caracterizada por blefarofimose (redução geral da abertura palpebral), ptose, telecanto (distância aumentada entre cantos internos), epicanto inverso (uma prega cutânea que se origina na pálpebra inferior e se estende para cima, cobrindo parcialmente o canto interno). Dois subtipos de BPES são observados. No tipo 1, as anomalias palpebrais estão associadas à infertilidade feminina devido à insuficiência ovariana e menopausa prematura. No tipo 2, apenas anomalias palpebrais são observadas. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic condition characterised by blepharophimosis (general reduction of palpebral aperture), ptosis, telecanthus (increased distance between inner canthi), epicanthus inversus (a skin fold arising in the lower eyelid and extending upwards, partially covering the inner canthus). Two subtypes of BPES are observed. In type 1, palpebral anomalies are associated with female infertility due to ovarian failure and premature menopause. In type 2, only palpebral anomalies are observed. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1374618555 / rank | |||||||||||||||
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CID11:ID_1374618555 | |||||||||||||||
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dki-india-ID_1374618555 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1374618555 / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 11:31, 15 August 2026
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic condition characterised by blepharophimosis (general reduction of palpebral aperture), ptosis, telecanthus (increased distance between inner canthi), epicanthus inversus (a skin fold arising in the lower eyelid and extending upwards, partially covering the inner canthus). Two subtypes of BPES are observed. In type 1, palpebral anomalies are associated with female infertility due to ovarian failure and premature menopause. In type 2, only palpebral anomalies are observed.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1374618555 |
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| English | Blepharophimosis - epicanthus inversus - ptosis |
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic condition characterised by blepharophimosis (general reduction of palpebral aperture), ptosis, telecanthus (increased distance between inner canthi), epicanthus inversus (a skin fold arising in the lower eyelid and extending upwards, partially covering the inner canthus). Two subtypes of BPES are observed. In type 1, palpebral anomalies are associated with female infertility due to ovarian failure and premature menopause. In type 2, only palpebral anomalies are observed. |
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CID11:ID_1374618555
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dki-india-ID_1374618555
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Concluído
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13 August 2026
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