MeSH Browser

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 Number: 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 MeSH Supplementary Concept Data 2024