Microcephaly is a condition where the head circumference is smaller than normal. Microcephaly may be present at birth or it may develop in the first few years of life. Often people with the disorder have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism.
Microcephaly may be caused by genetic abnormalities or by drugs, alcohol, certain viruses, and toxins that are exposed to the fetus during pregnancy and damage the developing brain tissue. Unfortunately, a 2015-2016 outbreak of Zika virus in Brazil has been associated with a large number of infants born with microcephaly. Epidemiological and some viral isolations suggest that pregnant women who get Zika virus have a high chance of fetal infection that may lead to microcephaly, although a definitive link between Zika virus infection and microcephaly is not yet proven.
Signs and Symptoms
microcephaly may include a smaller than normal head circumference that usually remains smaller than normal as the child grows, dwarfism or short stature, delayed motor and speech functions, mental retardation, seizures, facial distortions, hyperactivity, balance and coordination problems, and other brain-related or neurological problems; although some with the disorder may develop normal intelligence. Yet, there is no such treatment for this anomaly.
Primary microcephaly is genetically heterogeneous, with most cases showing autosomal recessive inheritance. For genetic analysis of microcephaly, a panel of 46 genes associated with primary microcephaly have been identified in Pakistani families, however mutations in ASPM or WDR62 are the major cause of autosomal recessive primary microcephaly in the Pakistani population.