Ophthalmology · Ophthalmology / Orbit and oculoplastics
Blepharophimosis–ptosis–epicanthus inversus syndrome
also: BPES
Eyelid malformation with premature ovarian insufficiency in type I.
- Specialty
- Ophthalmology
- Subspecialty
- Ophthalmology / Orbit and oculoplastics
- Sex & age distribution
- Male: affected, eyelid features only; Female: affected, with ovarian insufficiency in type I; Children: yes, congenital
- Gene(s) involved
- FOXL2
- Alternative names & eponyms
- BPES
Etiology & mechanism
Dominant FOXL2 haploinsufficiency.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Blepharophimosis–ptosis–epicanthus inversus syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Char syndrome
ptosis
1 shared
Congenital myasthenic syndrome
ptosis
1 shared
Congenital myasthenic syndrome, acetylcholine receptor deficiency
ptosis
1 shared
Congenital myasthenic syndrome, slow-channel type
ptosis
1 shared
Duane retraction syndrome
amblyopia
1 shared
Horner syndrome
ptosis
1 shared
Lymphedema–distichiasis syndrome
ptosis
1 shared
Marcus Gunn jaw-winking syndrome
amblyopia
1 shared
Miller Fisher syndrome
ptosis
1 shared
Noonan syndrome
ptosis
Shares genes with
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