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

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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A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.
 

Author(s): Muhammad Imran Naseer, Mahmood Rasool, Sameera Sogaty, Rukhaa Adeel Chaudhary, Haifa Mansour Mansour, Adeel G Chaudhary, Adel M Abuzenadah, Mohammad H Al-Qahtani

Journal: Ann Saudi Med. ;37(2):148-153.

 

Primary microcephaly (MCPH) is a rare developmental defect characterized by impaired cognitive functions, retarded neurodevelopment and reduced brain size. It is genetically heterogeneous and more than 17 genes so far have been identified that are associated with this disease.

Last Updated: 5 Apr 2017

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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
 

Author(s): Massimo Zollo, Mustafa Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Marianeve Carotenuto, Reza Maroofian, Ahmed Al-Amri, Royana Singh, Iolanda Scognamiglio, Majid Mojarrad, Luca Musella, Angela Duilio, Angela Di Somma, Ender Karaca, Anna Rajab, Aisha Al-Khayat, Tribhuvan Mohan Mohapatra, Atieh Eslahi, Farah Ashrafzadeh, Lettie E Rawlins, Rajniti Prasad, Rashmi Gupta, Preeti Kumari, Mona Srivastava, Flora Cozzolino, Sunil Kumar Rai, Maria Monti, Gaurav V Harlalka, Michael A Simpson, Philip Rich, Fatema Al-Salmi, Michael A Patton, Barry A Chioza, Stephanie Efthymiou, Francesca Granata, Gabriella Di Rosa, Sarah Wiethoff, Eugenia Borgione, Carmela Scuderi, Kshitij Mankad, Michael G Hanna, Piero Pucci, Henry Houlden, James R Lupski, Andrew H Crosby, Emma L Baple

Journal: Brain. 2017 Apr;140(4):940-952.

 

PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive ...

Last Updated: 23 Mar 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 24 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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Zika Virus Infection and Microcephaly: Evidence for a Causal Link.
 

Author(s): Jin-Na Wang, Feng Ling

Journal:

 

Zika virus (ZIKV) is a flavivirus related to the Dengue, yellow fever and West Nile viruses. Since the explosive outbreaks of ZIKV in Latin America in 2015, a sudden increase in the number of microcephaly cases has been observed in infants of women who were pregnant when they contracted ...

Last Updated: 24 Oct 2016

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Available Evidence of Association between Zika Virus and Microcephaly.
 

Author(s): Jing Wu, Da-Yong Huang, Jun-Tao Ma, Ying-Hua Ma, Yi-Fei Hu

Journal: Chin. Med. J.. 2016 10;129(19):2347-56.

 

To clarify the possible association between the Zika virus (ZIKV) and microcephaly and understand where we are in terms of research and the debate on the causation between mild maternal clinical features and severe fetal microcephaly.

Last Updated: 20 Sep 2016

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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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Zika Virus Infection's Pregnancy Consequences in French Department of America
 

Status: Recruiting

Condition Summary: Incidence of ZIKV Infection on Fetus During the Pregnancy

 

Last Updated: 26 Sep 2016

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