You are using an outdated browser. Please upgrade your browser to improve your experience.

blepharophimosis, ptosis, and epicanthus inversus syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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).
Uniprot Description A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects.
Mondo Term and Equivalent IDs
MONDO:0007201:  blepharophimosis, ptosis, and epicanthus inversus syndrome
GARD:0000023: 
MESH:C562419: 
Orphanet:126: 
SCTID:715391004: 
UMLS:C0220663: