Microcephaly

Common Name(s)

Microcephaly

Microcephaly is a neurological condition in which a person's head is significantly smaller than normal for their age and sex, based on standardized charts. This condition, which most often occurs because the brain fails to grow at a normal rate, can be present at birth or it may develop in the first few years of life.  Conditions that affect brain growth and can cause microcephaly include infections, genetic disorders, severe malnutrition and other environmental factors. Some children with microcephaly will be of normal intelligence and development. However, many children with microcephaly experience complications such as developmental delays, difficulties with balance and coordination, short stature, hyperactivity, mental retardation, seizures or other neurological abnormalities.  While there's no treatment for microcephaly, early intervention may help enhance development and improve quality of life.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microcephaly" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Microcephaly" returned 292 free, full-text research articles on human participants. First 3 results:

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
 

Author(s): Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-Ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa

Journal:

 

The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH), ...

Last Updated: 7 Aug 2017

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Case report: microcephaly associated with Zika virus infection, Colombia.
 

Author(s): Salim Mattar, Carolina Ojeda, Janna Arboleda, German Arrieta, Irene Bosch, Ingrid Botia, Nelson Alvis-Guzman, Carlos Perez-Yepes, Lee Gerhke, German Montero

Journal:

 

Recently there has been a large outbreak of Zika virus infections in Colombia, South America. The epidemic began in September 2015 and continued to April 2017, for the total number of Zika cases reported of 107,870. For those confirmed Zika cases, there were nearly 20,000 (18.5%) ...

Last Updated: 14 Jun 2017

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Severe congenital microcephaly with AP4M1 mutation, a case report.
 

Author(s): Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz

Journal:

 

Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of essentially postnatal onset.

Last Updated: 3 May 2017

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Microcephaly" returned 27 free, full-text review articles on human participants. First 3 results:

Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.
 

Author(s): Niu Li, Yufei Xu, Guoqiang Li, Tingting Yu, Ru-En Yao, Xiumin Wang, Jian Wang

Journal: Medicine (Baltimore). 2017 May;96(20):e6914.

 

The CTNNB1 (β-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and development of a variety of carcinomas in humans. Recently, ...

Last Updated: 17 May 2017

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Potential mechanisms of Zika-linked microcephaly.
 

Author(s): Emily Merfeld, Lily Ben-Avi, Mason Kennon, Kara L Cerveny

Journal: Wiley Interdiscip Rev Dev Biol. 2017 Jul;6(4):.

 

A recent outbreak of Zika virus (ZIKV) in Brazil is associated with microcephaly in infants born of infected mothers. As this pandemic spreads, rapid scientific investigation is shedding new light on how prenatal infection with ZIKV causes microcephaly. In this analysis we provide ...

Last Updated: 6 Apr 2017

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Using brain organoids to understand Zika virus-induced microcephaly.
 

Author(s): Xuyu Qian, Ha Nam Nguyen, Fadi Jacob, Hongjun Song, Guo-Li Ming

Journal: Development. 2017 Mar;144(6):952-957.

 

Technologies to differentiate human pluripotent stem cells into three-dimensional organized structures that resemble in vivo organs are pushing the frontiers of human disease modeling and drug development. In response to the global health emergency posed by the Zika virus (ZIKV) outbreak, ...

Last Updated: 15 Mar 2017

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Microcephaly Genetic Deficiency in Neural Progenitors
 

Status: Recruiting

Condition Summary: Microcephaly

 

Last Updated: 24 Jul 2017

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Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
 

Status: Recruiting

Condition Summary: Microcephaly; Mental Retardation

 

Last Updated: 21 Oct 2016

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Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
 

Status: Recruiting

Condition Summary: ZIKA VIRUS INFECTION; Child Development; Microcephaly

 

Last Updated: 23 Aug 2017

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