Blepharophimosis - epicanthus inversus - ptosis (Q86152): Difference between revisions

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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
default for all languages	ID_1374618555
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.