Macrocephaly

Common Name(s)

Macrocephaly

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Craniosynostosis and Positional Plagiocephaly Support Inc

Our mission is to spread awareness, educate and offer support and guidance to families affected by Craniosynostosis and/or Positional Plagiocephaly as well as any craniofacial concern affecting the skull.

Last Updated: 22 Apr 2011

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Craniosynostosis and Positional Plagiocephaly Support Inc

Our mission is to spread awareness, educate and offer support and guidance to families affected by Craniosynostosis and/or Positional Plagiocephaly as well as any craniofacial concern affecting the skull.

www.cappskids.org

Last Updated: 22 Apr 2011

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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 "Macrocephaly" returned 33 free, full-text research articles on human participants. First 3 results:

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.
 

Author(s): Maria Marchese, Valerio Conti, Giulia Valvo, Francesca Moro, Filippo Muratori, Raffaella Tancredi, Filippo M Santorelli, Renzo Guerrini, Federico Sicca

Journal:

 

With a complex and extremely high clinical and genetic heterogeneity, autism spectrum disorders (ASD) are better dissected if one takes into account specific endophenotypes. Comorbidity of ASD with epilepsy (or paroxysmal EEG) has long been described and seems to have strong genetic ...

Last Updated: 5 Mar 2014

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Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
 

Author(s): Emma L Baple, Reza Maroofian, Barry A Chioza, Maryam Izadi, Harold E Cross, Saeed Al-Turki, Katy Barwick, Anna Skrzypiec, Robert Pawlak, Karin Wagner, Roselyn Coblentz, Tala Zainy, Michael A Patton, Sahar Mansour, Phillip Rich, Britta Qualmann, Matt E Hurles, Michael M Kessels, Andrew H Crosby

Journal: Am. J. Hum. Genet.. 2014 Jan;94(1):87-94.

 

The proper development of neuronal circuits during neuromorphogenesis and neuronal-network formation is critically dependent on a coordinated and intricate series of molecular and cellular cues and responses. Although the cortical actin cytoskeleton is known to play a key role in ...

Last Updated: 6 Jan 2014

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Macrocephaly as a clinical indicator of genetic subtypes in autism.
 

Author(s): Steven Klein, Pantea Sharifi-Hannauer, Julian A Martinez-Agosto

Journal: Autism Res. 2013 Feb;6(1):51-6.

 

An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (>3 standard deviation [SD], 99.7th percentile) have been correlated to mutations in the gene phosphatase and tensin homolog (PTEN). However, the phenotypic and ...

Last Updated: 21 Feb 2013

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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 "Macrocephaly" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetics, Brain Structure and Thinking Skills in Autism
 

Status: Recruiting

Condition Summary: Autism Spectrum Disorders

 

Last Updated: 22 Jul 2014

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