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Blepharophimosis-ptosis-epicanthus inversus syndrome

What is Blepharophimosis-ptosis-epicanthus inversus syndrome?

A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).

Other condition names

  • BPES

Inheritance type

Autosomal dominant, Not applicable

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Antenatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.