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Blepharophimosis, Ptosis, and Epicanthus Inversus MeSH Supplementary Concept Data 2025


MeSH Supplementary
Blepharophimosis, Ptosis, and Epicanthus Inversus
Unique ID
C562419
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C562419
Entry Term(s)
Blepharophimosis Syndrome
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
Blepharophimosis, Ptosis, and Epicanthus Inversus Type I
Blepharophimosis, Ptosis, and Epicanthus Inversus Type II
Registry Numbers
0
Heading Mapped to
*Skin Abnormalities
*Urogenital Abnormalities
*Blepharophimosis
Frequency
64
Note
A hereditary condition characterized by blepharophimosis, epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and PTOSIS of the eyelids. In addition, affected females may present with urogenital abnormalities, low ESTROGEN and PROGESTERONE, and infertility due to PREMATURE OVARIAN FAILURE in Type I BPES. Mutations in the FOXL2 gene have been identified. OMIM: 110100
Date of Entry
2012/11/05
Revision Date
2015/08/17
Blepharophimosis, Ptosis, and Epicanthus Inversus Preferred
Blepharophimosis, Ptosis, and Epicanthus Inversus Type II Narrower
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