Blepharophimosis with Ptosis Syndactyly and Short Stature

Overview

Type of disease: Rare conditions

Blepharophimosis with Ptsosi, Syndactyly, and Short Stature is a rare condition mainly characterized by problems with the eyes (eyeball and eyelid position), short body frame, and webbed fingers and toes. Individuals with this condition have drooping eyelids and misaligned eyes. Hence, individuals may have vision problems. Additionally, individuals may have problems performing tasks involving hand movements. The condition is often diagnosed during childhood. Doctors diagnose this condition based on physical examinations. Treatment is based on a case-by-case basis and depends on the specific needs of the patient. Eye and hand specialists may suggest individuals undergo surgery to fix problems to help with seeing and improve movement of the hands and feet.

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