Infantile choroidocerebral calcification syndrome

Definition

Orphanet

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.

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Symptoms

Medical Term Other Names Description
Abnormality of the foot Foot deformity, Foot deformities, Abnormality of the feet, Abnormal feet morphology [more] An abnormality of the skeleton of foot.
Hyperactivity Hyperactive behavior
Tendonitis Teninitis Inflammation of a tendon.
Strabismus Squint, Heterotropia, Cross-eyed, Squint eyes [more] Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Posterior uveitis Choroiditis Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.
Hyperactive deep tendon reflexes Brisk deep tendon reflexes

Other Classifiers and IDs