Professionals

Primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by a significantly reduced head circumference (more than 3 standard deviations below the mean for age and sex) present at birth or in early infancy, without major brain malformations. The primary clinical feature is non-progressive intellectual disability, typically ranging from mild to moderate, while motor function is often preserved. Brain imaging commonly shows a simplified gyral pattern and reduced cerebral cortex. MCPH is genetically heterogeneous, with mutations in several genes, most commonly ASPM, MCPH1, WDR62, andCEP135being implicated. The condition follows an autosomal recessive inheritance pattern, often observed in consanguineous families.

The global prevalence is estimated to be 1 in 30,000 to 250,000 live births, but it is more common in populations with high rates of consanguinity, such as parts of Pakistan, the Middle East, and North Africa.