/infantile choroidocerebral calcification syndrome

infantile choroidocerebral calcification syndrome

Rare Disease

MONDO:0008981

Also Known As

Choroido-cerebral calcification syndrome with retardationchoroid plexus calcification and intellectual disabilitychoroid plexus calcification and mental retardationchoroid plexus calcification with intellectual disabilitychoroid plexus calcification with mental retardation

Definition

This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.