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

Estrogen regulation of microcephaly genes and evolution of brain sexual dimorphism in primates.
 

Author(s): Lei Shi, Qiang Lin, Bing Su

Journal:

 

Sexual dimorphism in brain size is common among primates, including humans, apes and some Old World monkeys. In these species, the brain size of males is generally larger than that of females. Curiously, this dimorphism has persisted over the course of primate evolution and human ...

Last Updated: 30 Jun 2015

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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
 

Author(s): Alicia Guemez-Gamboa, Long N Nguyen, Hongbo Yang, Maha S Zaki, Majdi Kara, Tawfeg Ben-Omran, Naiara Akizu, Rasim Ozgur Rosti, Basak Rosti, Eric Scott, Jana Schroth, Brett Copeland, Keith K Vaux, Amaury Cazenave-Gassiot, Debra Q Y Quek, Bernice H Wong, Bryan C Tan, Markus R Wenk, Murat Gunel, Stacey Gabriel, Neil C Chi, David L Silver, Joseph G Gleeson

Journal: Nat. Genet.. 2015 Jul;47(7):809-13.

 

Docosahexanoic acid (DHA) is the most abundant omega-3 fatty acid in brain, and, although it is considered essential, deficiency has not been linked to disease. Despite the large mass of DHA in phospholipids, the brain does not synthesize it. DHA is imported across the blood-brain ...

Last Updated: 26 Jun 2015

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Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.
 

Author(s): Hanqian Mao, Louis-Jan Pilaz, John J McMahon, Christelle Golzio, Danwei Wu, Lei Shi, Nicholas Katsanis, Debra L Silver

Journal: J. Neurosci.. 2015 May;35(18):7003-18.

 

The cerebral cortex is built during embryonic neurogenesis, a period when excitatory neurons are generated from progenitors. Defects in neurogenesis can cause acute neurodevelopmental disorders, such as microcephaly (reduced brain size). Altered dosage of the 1q21.1 locus has been ...

Last Updated: 7 May 2015

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

Molecular genetics of human primary microcephaly: an overview.
 

Author(s): Muhammad Faheem, Muhammad Imran Naseer, Mahmood Rasool, Adeel G Chaudhary, Taha A Kumosani, Asad Muhammad Ilyas, Peter Pushparaj, Farid Ahmed, Hussain A Algahtani, Mohammad H Al-Qahtani, Hasan Saleh Jamal

Journal: BMC Med Genomics. 2015 ;8 Suppl 1():S4.

 

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. Microcephaly is the outcome of a smaller but architecturally normal brain; the cerebral cortex exhibits a ...

Last Updated: 8 May 2015

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Molecular and cellular basis of autosomal recessive primary microcephaly.
 

Author(s): Marine Barbelanne, William Y Tsang

Journal: Biomed Res Int. 2014 ;2014():547986.

 

Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related ...

Last Updated: 30 Dec 2014

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Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.
 

Author(s): Maja von der Hagen, Mark Pivarcsi, Juliane Liebe, Horst von Bernuth, Nataliya Didonato, Julia B Hennermann, Christoph B├╝hrer, Dagmar Wieczorek, Angela M Kaindl

Journal: Dev Med Child Neurol. 2014 Aug;56(8):732-41.

 

The aim of this study was to assess the diagnostic approach to microcephaly in childhood and to identify the prevalence of the various underlying causes/disease entities.

Last Updated: 21 Jul 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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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: 27 Jul 2015

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Fetal and Maternal Head Circumference During Pregnancy in Israeli Population
 

Status: Not yet recruiting

Condition Summary: Maternal-Fetal Relations; Microcephaly

 

Last Updated: 26 Jul 2015

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Ambrisentan in Single Ventricle
 

Status: Recruiting

Condition Summary: Hypoplastic Left Heart Syndrome; Hypoplastic Right-sided Heart Complex

 

Last Updated: 26 Oct 2015

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