Microcephaly

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Microcephaly is a neurological disorder in which the circumference of the head is at least three standard deviations smaller than average for the person’s age and sex. Microcephaly may be congenital or it may develop in the first few years of life.

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. Two copies of a loss-of-function mutation in one of the microcephalin genes causes primary microcephaly.

Microcephaly is a disorder characterized by a small brain and may be caused by a disturbance in the proliferation of nerve cells. Microcephaly may also be associated with maternal problems such as alcoholism (which can result in the Fetal alcohol syndrome disability), diabetes, or rubella (German measles). A genetic factor may play a role in causing some cases of microcephaly. Affected newborns generally have striking neurological defects and seizures. Severely impaired intellectual development is common, but disturbances in motor functions may not appear until later in life.

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

1. Anencephaly
2. Cerebral atrophy; perinatal brain damage from hypoxia
3. Congenital transplacental infection
   • Congenital toxoplasmosis
   • Congenital rubella syndrome
   • Congenital cytomegalovirus infection
   • Neonatal herpes
   • Congenital syphilis
4. Craniosynostosis (total)
5. Encephalocele
6. Micrencephaly (idiopathic small brain)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Microcephaly may be congenital or it may develop in the first few years of life. Infants with microcephaly are born with either a normal or reduced head size. Subsequently the head fails to grow while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. As the child grows older, the smallness of the skull becomes more obvious, although the entire body also is often underweight and dwarfed. Development of motor functions and speech may be delayed. Hyperactivity and mental retardation are common occurrences, although the degree of each varies. Convulsions may also occur. Motor ability varies, ranging from clumsiness in some to spastic quadriplegia in others. Some children will only have mild disability. Others, especially if they are otherwise growing and developing normally, will have normal intelligence and continue to develop and meet regular age-appropriate milestones.

In general, life expectancy for individuals with microcephaly is reduced. The prognosis varies depending on the presence of associated abnormalities.