What is microcephaly?

Microcephaly is an abnormally small head due to failure of brain growth. In precise terms, microcephaly is a head circumference that is more than 2 standard deviations below the normal mean for age, sex, race, and gestation. (Some authorities define microcephaly as more than 3 standard deviations below the mean.)

When does microcephaly occur?

Microcephaly may be congenital (present at birth) or it may become evident in the first few years of life when the head fails to grow while the face continues to develop at a normal rate, producing a child with a small head, a relatively large face, and receding forehead. As the child grows older, the smallness of the head becomes more obvious.

Could it be due to the skull being too small?

Yes, this can happen if the brain is normal to start with, but there is premature closure of the cranial sutures, the normal openings between the skull bones in the baby's head. This condition is termed craniosynostosis. It can prevent the baby's head from growing properly and result in microcephaly.

Craniosynostosis can be detected by the baby's doctor. It is one reason why a baby should have regular checkups beginning at birth through infancy and early childhood. Once craniosynostosis is detected, it needs to be corrected by surgery. The operation is designed to open the sutures and keep them open so the brain can grow and develop normally.

Does microcephaly always cause mental retardation?

Microcephaly is often equated with developmental delay and mental retardation. However, not all children with microcephaly are mentally retarded. The development of motor skills and speech may be delayed. Convulsions may also occur in some cases. Motor ability may be impaired and range from clumsiness in some children to spastic quadriplegia in others.

What causes microcephaly?

Microcephaly stems from a wide variety of problems that can cause abnormal growth of the brain including infections, radiation, medications, chromosome abnormalities and genetic diseases. Congenital microcephaly may follow intrauterine infections such as with rubella, cytomegalovirus (CMV) and toxoplasmosis. It is part of many chromosomal abnormalities and other syndromes including:

• Chromosome abnormalities -- such as trisomy 18 (Edwards syndome), trisomy 13 (Patau syndrome), the Wolf-Hirschhorn syndrome, the cat cry syndrome, and partial deletion of long arm of chromosome 13,
• Contigous gene syndromes -- such as the Miller-Dieker syndrome. Langer-Giedion syndrome, Prader-Willi syndrome, and the aniridia-Wilms tumor syndrome.
• Genetic disorders -- such as the Johanson-Blizzard syndrome, Seckel syndrome, and the Smith-Lemli-Opitz syndrome.
• Environmental insults -- such as maternal PKU (mothers who have poorly controlled PKU during pregnancy) and the fetal alcohol syndrome.

How is microcephaly treated?

There is no specific treatment for microcephaly. Treatment is symptomatic and supportive. On the average, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor.

What does "microcephaly" mean?

The prefix "micro-" is derived from the Greek "mikros" meaning small. It diminishes whatever it precedes. The "-cephaly" comes from the Greek "kephale" meaning head.

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