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NINDS Microcephaly Information Page


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What is Microcephaly?

Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing.  Microcephaly can be present at birth or it may develop in the first few years of life.  It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development.  It is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes.  Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol, became infected with a cytomegalovirus, rubella (German measles), or varicella (chicken pox) virus, was exposed to certain toxic chemicals, or had untreated phenylketonuria (PKU).  Babies born with microcephaly will have a smaller than normal head that will fail to grow as they progress through infancy.  Depending on the severity of the accompanying syndrome, children with microcephaly may have mental retardation, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities.  Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference. 

Is there any treatment?

There is no treatment for microcephaly that can return a child’s head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.

What is the prognosis?

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. 

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to microcephaly in its laboratories at the National Institutes of Health (NIH) and supports additional research through grants to major medical institutions across the country.  A small group of researchers studying a rare neurometabolic syndrome (3-PGDH), which causes microcephaly, have successfully used amino acid replacement therapy to reduce and prevent seizures. 

NIH Patient Recruitment for Microcephaly Clinical Trials

Organizations

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The Arc of the United States
1825 K Street, NW
Suite 1200
Washington, DC   20006
Info@thearc.org
http://www.thearc.org
Tel: 202-534-3700 800-433-5255
Fax: 202-534-3731

Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Suite 104
Orlando, FL   32814
betty@birthdefects.org
http://www.birthdefects.org
Tel: 407-895-0802

March of Dimes
1275 Mamaroneck Avenue
White Plains, NY   10605
askus@marchofdimes.com
http://www.marchofdimes.com
Tel: 914-997-4488 888-MODIMES (663-4637)
Fax: 914-428-8203

National Dissemination Center for Children with Disabilities
U.S. Dept. of Education, Office of Special Education Programs
1825 Connecticut Avenue NW, Suite 700
Washington, DC   20009
nichcy@aed.org
http://www.nichcy.org
Tel: 800-695-0285 202-884-8200
Fax: 202-884-8441



Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated October 29, 2008