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Blepharophimosis, ptosis, and epicanthus inversus syndrome

rare

Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).

Identifiers
MONDO:0007201 OMIM:110100Orphanet:126
Causal genes
FOXL2
Part of
Autosomal dominant diseaseInherited primary ovarian failureTelecanthus
Also known as
blepharophimosis syndrome type 1 · blepharophimosis types 1 and 2 · blepharophimosis, epicanthus inversus, and ptosis, type 1 · blepharophimosis, epicanthus inversus, and ptosis, type 2 · blepharophimosis, ptosis, and epicanthus inversus

Subtypes

All diseases Rare only
Disease Subtypes
Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2

Rare disease

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