Blepharophimosis syndrome is an autosomal dominant inherited condition.
Clinical Manifestations
The condition is characterized by a shortened horizontal palpebral fissure, ptosis, epicanthus inversus, and an increased intercanthal distance. Additional features may include lower eyelid entropion and a low nasal bridge.
Figure 1 Appearance of blepharophimosis syndrome
The patient exhibits shortened horizontal palpebral fissures in both eyes, an increased intercanthal distance, ptosis, and epicanthus inversus.
Diagnosis
The diagnosis is based on characteristic clinical features.
Treatment
Treatment typically involves staged reconstructive surgeries.