Blepharophimosis, Ptosis, and Epicanthus Inversus [Supplementary Concept]
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 introduced: November 5, 2012
MeSH Unique ID: C562419
Heading Mapped to:
Entry Terms:
- Blepharophimosis Syndrome
- Blepharophimosis, Ptosis, and Epicanthus Inversus Type I
- Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
- Blepharophimosis, Ptosis, and Epicanthus Inversus Type II