Keywords

#blepharophimosis,_ptosis,_epicanthus_inversus_syndrome

Blepharophimosis, ptosis, epicanthus inversus syndrome

Rare genetic condition involving underdeveloped eyelids

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare medical anomaly characterized by the conditions it is named after: blepharophimosis, ptosis and epicanthus inversus. There are two types; type 1 is distinguished from type 2 by including the symptom of premature ovarian insufficiency (POI) in females, which causes menopausal symptoms and infertility in patients as young as 15 years old.

Wed 6th

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Blepharophimosis, ptosis, epicanthus inversus syndrome Blepharophimosis List of syndromes FOXL2 Primary ovarian insufficiency XX gonadal dysgenesis List of medical abbreviations: B Syndromic microphthalmia Michels syndrome SOX14
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