Primary Microcephaly is defined as having a head circumference at least 2 SD below the mean for age, sex, and ethnicity. MCPH2 is an autosomal recessive condition characterized by primary microcephaly, mental retardation, and no other associated malformations. Typically, the patients have low, sloping foreheads. Patients usually, but not necessarily, show cortical malformations on neural scans. These malformations include polymicrogyria, pachygyria, hypoplasia of corpus callosum, abnormal/simplified gyral patterning and lissencephaly. Patients show abnormal neurological and behavioural manifestations, including delayed psychomotor development, moderate to severe mental retardation, impulsivity, and aggression.
Management of the condition centres mainly on supportive therapy, such as special education, speech and language therapy, behavioral therapy, occupational therapy, and community services for families.