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Blepharophimosis - epicanthus inversus - ptosis

Synonym(s) Blepharophimosis types 1 and 2
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
or Not applicable
Age of onset Neonatal
  • Q10.3
MeSH -
MedDRA -


Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is an ophthalmic disorder, characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with premature ovarian failure (POF; see this term)(type I) or isolated (type II).

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Detailed information

Clinical genetics review
  • EN (2009)
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