General Information of Disease (ID: DIS2Q6SG)

Disease Name Bilateral frontal polymicrogyria
Definition
Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.
Disease Hierarchy
DISMZLHY: Bilateral polymicrogyria
DIS2Q6SG: Bilateral frontal polymicrogyria
Disease Identifiers
MONDO ID
MONDO_0016162
UMLS CUI
C5437679
MedGen ID
1754014
Orphanet ID
208444
SNOMED CT ID
890285006