Blepharophimosis - epicanthus inversus - ptosis (Q86152)
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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. |
