Osteogenesis imperfecta (
OI), also known as
brittle bone disease or
Lobstein syndrome, is a
congenital bone disorder characterized by brittle bones that are prone to
fracture. OI may also present with shorter height, neurological features including
communicating hydrocephalus,
basilar invagination, and
seizures, blue sclerae,
hearing loss, or other complications. The fractures themselves can cause acute or chronic pain, reduced quality of life, and
depression.