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

Microcephaly genes evolved adaptively throughout the evolution of eutherian mammals.
 

Author(s): Stephen H Montgomery, Nicholas I Mundy

Journal:

 

Genes associated with the neurodevelopmental disorder microcephaly display a strong signature of adaptive evolution in primates. Comparative data suggest a link between selection on some of these loci and the evolution of primate brain size. Whether or not either positive selection ...

Last Updated: 14 Jun 2014

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Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
 

Author(s): Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, Lili Jing, Jiang Wu, Brenda J Barry, Ganeshwaran H Mochida, R Sean Hill, Jill M Weimer, Quinn Stein, Annapurna Poduri, Jennifer N Partlow, Dorothée Ville, Olivier Dulac, Tim W Yu, Anh-Thu N Lam, Sarah Servattalab, Jacqueline Rodriguez, Nathalie Boddaert, Arnold Munnich, Laurence Colleaux, Leonard I Zon, Dieter Söll, Christopher A Walsh, Rima Nabbout

Journal: Am. J. Hum. Genet.. 2014 Apr;94(4):547-58.

 

Progressive microcephaly is a heterogeneous condition with causes including mutations in genes encoding regulators of neuronal survival. Here, we report the identification of mutations in QARS (encoding glutaminyl-tRNA synthetase [QARS]) as the causative variants in two unrelated ...

Last Updated: 7 Apr 2014

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The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
 

Author(s): Laura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, Denise Foster, Chandree L Beaulieu, , Jacek Majewski, Dennis E Bulman, Kym M Boycott

Journal:

 

Despite remarkable advances in genetic testing, many adults with syndromic epilepsy remain without a molecular diagnosis. The challenge in providing genetic testing for this patient population lies in the extensive genetic heterogeneity associated with epilepsy. Even for the subset ...

Last Updated: 7 Feb 2014

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

Genetic causes of microcephaly and lessons for neuronal development.
 

Author(s): Edward C Gilmore, Christopher A Walsh

Journal: Wiley Interdiscip Rev Dev Biol. 2013 Jul;2(4):461-78.

 

The study of human developmental microcephaly is providing important insights into brain development. It has become clear that developmental microcephalies are associated with abnormalities in cellular production, and that the pathophysiology of microcephaly provides remarkable insights ...

Last Updated: 9 Sep 2013

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Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
 

Author(s): Saqib Mahmood, Wasim Ahmad, Muhammad J Hassan

Journal:

 

Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. In MCPH patients, brain size reduced to almost one-third of its original volume due to reduced ...

Last Updated: 27 Jun 2011

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Cdk5rap2 exposes the centrosomal root of microcephaly syndromes.
 

Author(s): Timothy L Megraw, James T Sharkey, Richard S Nowakowski

Journal: Trends Cell Biol.. 2011 Aug;21(8):470-80.

 

Autosomal recessive primary microcephaly (MCPH) is characterized by small brain size as a result of deficient neuron production in the developing cerebral cortex. Although MCPH is a rare disease, the questions surrounding its etiology strike at the core of stem cell biology. The seven ...

Last Updated: 2 Aug 2011

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Symptoms, Diagnosis, and Treatment

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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: 22 May 2014

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Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Hoyeraal Hreidarsson Syndrome; Revesz Syndrome; Aplastic Anemia

 

Last Updated: 20 May 2014

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Ambrisentan in Single Ventricle
 

Status: Not yet recruiting

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

 

Last Updated: 7 Nov 2014

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