blepharophimosis syndrome; blepharophimosis, ptosis, & epicanthus inversus syndrome (BPES)

Genetics

• autosomal dominant
• associated with defects in FOXL2 gene

Clinical manifestations

• eyelid dysplasia
• small palpebral fissures
• drooping eyelids
• skin fold running inward & upward from the lower lid
• in type 1 BPSE (BPES1)
  • eyelid abnormalities are associated with female infertility
  • affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure
• in type 2 BPSE (BPES2)
  • affected individuals show only the eyelid defects

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/110100