blepharophimosis-ptosis-epicanthus inversus syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0265237

JABL: Abnormal narrowing of the palpebral fissures with drooping and epicanthus inversus are the principal characteristics of this syndrome. Associated disorders may include mental retardation, ovarian and uterine atrophy with infertility, and lacrimal abnormalities. Type I occurs in females and is associated with infertility. Type II occurs in both males and females.

Download in:

View as