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 302 free, full-text research articles on human participants. First 3 results:

Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary) microcephaly disease.
 

Author(s): Rui Li, Le Sun, Ai Fang, Peng Li, Qian Wu, Xiaoqun Wang

Journal: Protein Cell. 2017 Nov;8(11):823-833.

 

The development of a cerebral organoid culture in vitro offers an opportunity to generate human brain-like organs to investigate mechanisms of human disease that are specific to the neurogenesis of radial glial (RG) and outer radial glial (oRG) cells in the ventricular zone (VZ) and ...

Last Updated: 31 Dec 1969

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Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles.
 

Author(s): Hsin-Yi Chen, Chien-Ting Wu, Chieh-Ju C Tang, Yi-Nan Lin, Won-Jing Wang, Tang K Tang

Journal:

 

Mutations in many centriolar protein-encoding genes cause primary microcephaly. Using super-resolution and electron microscopy, we find that the human microcephaly protein, RTTN, is recruited to the proximal end of the procentriole at early S phase, and is located at the inner luminal ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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 30 free, full-text review articles on human participants. First 3 results:

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.
 

Author(s): Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He

Journal:

 

Microcephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important contributors.

Last Updated: 31 Dec 1969

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How does Zika virus cause microcephaly?
 

Author(s): Zhexing Wen, Hongjun Song, Guo-Li Ming

Journal: Genes Dev.. 2017 May;31(9):849-861.

 

The re-emergence of Zika virus (ZIKV), a mosquito-borne and sexually transmitted flavivirus circulating in >70 countries and territories, poses a significant global threat to public health due to its ability to cause severe developmental defects in the human brain, such as microcephaly. ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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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