Learn About Autosomal Recessive Primary Microcephaly

What is the definition of Autosomal Recessive Primary 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.

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What are the causes of Autosomal Recessive Primary 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 Autosomal Recessive Primary 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.

Contact 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 should I expect during a doctor appointment?

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 of a newborn
Microcephaly
Ultrasound, normal fetus - ventricles of brain
Who are the top Autosomal Recessive Primary Microcephaly Local Doctors?
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Neurology

Berlin, BE, DE 

Angela Kaindl practices in Berlin, Germany. Kaindl is rated as an Elite expert by MediFind in the treatment of Autosomal Recessive Primary Microcephaly. She is also highly rated in 14 other conditions, according to our data. Her top areas of expertise are Autosomal Recessive Primary Microcephaly, Microcephaly, Achalasia Microcephaly Syndrome, and Cortical Dysplasia.

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Highly rated in
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QU Health

Department Of Basic Medical Sciences, College Of Medicine, Qatar University 
Doha, DA, QA 

Sami Zaqout practices in Doha, Qatar. Zaqout is rated as an Elite expert by MediFind in the treatment of Autosomal Recessive Primary Microcephaly. They are also highly rated in 4 other conditions, according to our data. Their top areas of expertise are Autosomal Recessive Primary Microcephaly, Achalasia Microcephaly Syndrome, Microcephaly, and Cortical Dysplasia.

 
 
 
 
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Institute Of Cell Biology And Neurobiology

Berlin, BE, DE 

Nadine Kraemer practices in Berlin, Germany. Kraemer is rated as an Elite expert by MediFind in the treatment of Autosomal Recessive Primary Microcephaly. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Autosomal Recessive Primary Microcephaly, Microcephaly, Achalasia Microcephaly Syndrome, and Cortical Dysplasia.

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What are the Latest Advances for Autosomal Recessive Primary Microcephaly?
Molecular evolutionary analysis of human primary microcephaly genes.
Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.
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Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Who are the sources who wrote this article ?

Published Date: December 10, 2021
Published By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Antoniou E, Orovou E, Sarella A, et al. Zika virus and the risk of developing microcephaly in infants: a systematic review. Int J Environ Res Public Health. 2020;17(11):3806. PMID: 32471131 pubmed.ncbi.nlm.nih.gov/32471131/.

Centers for Disease Control and Prevention website. Zika virus. www.cdc.gov/zika/index.html. Updated September 20, 2021. Accessed January 19, 2022.

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.