Condition 101 About Microcephaly

What is the definition of Microcephaly?

Microcephaly is a condition in which a person's head size is much smaller than that of others of the same age and sex. Head size is measured as the distance around the top of the head. A smaller than normal size is determined using standardized charts.

What are the causes for Microcephaly?

Microcephaly most often occurs because the brain does not grow at a normal rate. The growth of the skull is determined by brain growth. Brain growth takes place while a baby is in the womb and during infancy.

Conditions that affect brain growth can cause smaller than normal head size. These include infections, genetic disorders, and severe malnutrition.

Genetic conditions that cause microcephaly include:

  • Cornelia de Lange syndrome
  • Cri du chat syndrome
  • Down syndrome
  • Rubinstein-Taybi syndrome
  • Seckel syndrome
  • Smith-Lemli-Opitz syndrome
  • Trisomy 18
  • Trisomy 21

Other problems that may lead to microcephaly include:

  • Uncontrolled phenylketonuria (PKU) in the mother
  • Methylmercury poisoning
  • Congenital rubella
  • Congenital toxoplasmosis
  • Congenital cytomegalovirus (CMV)
  • Use of certain drugs during pregnancy, especially alcohol and phenytoin

Becoming infected with the Zika virus while pregnant can also cause microcephaly. The Zika virus has been found in Africa, the South Pacific, tropical regions of Asia, and in Brazil and other parts of South America, along with Mexico, Central America, and the Caribbean.

When should I contact a medical professional for Microcephaly?

Most often, microcephaly is diagnosed at birth or during routine well-baby exams. Talk to your health care provider if you think your infant's head size is too small or not growing normally.

Call your provider if you or your partner has been to an area where Zika is present and you are pregnant or thinking about becoming pregnant.

WHAT TO EXPECT AT YOUR OFFICE VISIT

Most of the time, microcephaly is discovered during a routine exam. Head measurements are part of all well-baby exams for the first 18 months. Tests take only a few seconds while the measuring tape is placed around the infant's head.

The provider will keep a record over time to determine:

  • What is the head circumference?
  • Is the head growing at a slower rate than the body?
  • What other symptoms are there?

It may also be helpful to keep your own records of your baby's growth. Talk to your provider if you notice that the baby's head growth seems to be slowing down.

If your provider diagnoses your child with microcephaly, you should note it in your child's personal medical records.

Skull
Microcephaly
Ultrasound,

REFERENCES

Centers for Disease Control and Prevention website. Zika virus. www.cdc.gov/zika/index.html. Updated June 4, 2019. Accessed November 15, 2019.

Johansson MA, Mier-Y-Teran-Romero L, Reefhuis J, Gilboa SM, Hills SL. Zika and the risk of microcephaly. N Engl J Med. 2016;375(1):1-4. PMID: 27222919 pubmed.ncbi.nlm.nih.gov/27222919/.

Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 609.

Mizaa GM, Dobyns WB. Disorders of brain size. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 28.

Top Global Doctors For Microcephaly

Latest Advances On Microcephaly

  • Condition: Intractable Epilepsy
  • Journal: Brain & development
  • Treatment Used: Ketogenic Diet
  • Number of Patients: 2
  • Published —
In this study, researchers evaluated the outcomes of using the ketogenic diet for the treatment of intractable epilepsy in twins with congenital metabolic disease ALG3-CDG.

Clinical Trials For Microcephaly

Clinical Trial
  • Status: Not yet recruiting
  • Phase: N/A
  • Intervention Type: Radiation
  • Participants: 45
  • Start Date: January 15, 2021
Microcephaly, Fanconi Anemia and Praxial Disorders
Clinical Trial
  • Status: Enrolling by invitation
  • Intervention Type: Other
  • Participants: 204
  • Start Date: May 1, 2020
Developmental Outcome After In Utero ZIKV Exposure in Children Without Congenital Zika Syndrome