Microcephaly

Overview

What is microcephaly?

Microcephaly is defined by small head and brain size compared to individuals of the same age by standardized size charts. Although the brain is of smaller size, microcephaly is not associated with brain malformations, and the head and brain continue to grow with age. Microcephaly may be a symptom of a larger condition, or an isolated finding from birth. It is theorized that the cause of microcephaly is associated with changes in genes which are responsible for cell division and growth in the brain. Symptoms vary from person to person, including mild to moderate intellectual disability, learning and speech delays and in some cases short stature. The frequency of microcephaly is about 1 in 30,000-250,000 live births, but has been found to be higher in Northern Pakistan populations (1 in 10,000). Currently, there is no treatment for microcephaly, and management focuses on treating the associated symptoms.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/microcephaly-109948/overview/67481 • DATE UPDATED: 2019-02-16

References

Genetic Home Reference. (2019, February). Autosomal recessive primary microcephaly. Retrieved on February 9th from https://ghr.nlm.nih.gov/condition/autosomal-recessive-primary-microcephaly#resources

The National Institute of Neurological Disorders and Stroke (NINDS). (2018, June). Microcephaly Information Page. Retrieved on February 9th from https://www.ninds.nih.gov/Disorders/All-Disorders/Microcephaly-Information-Page

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