Macrocephaly

Common Name(s)

Macrocephaly

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by {5:Olney, 2007} and {8:Williams et al., 2008}). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by {1:Alfaiz et al., 2014}).
 

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: 19 Nov 2014

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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.

http://www.cappskids.org/

Last Updated: 19 Nov 2014

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

Man with macrocephaly, learning disability and multiple basal cell carcinomas.
 

Author(s): Charlotte von der Lippe, Ingrid Roscher, Hilde Nordgarden, Cecilie Rustad, Selma Mujezinovic Larsen, Even Mjøen, Åse Bratland

Journal:

 

Gorlin syndrome is a rare genetic condition in which patients may develop medulloblastomas, jaw cysts and basal cell carcinomas and show congenital skeletal malformations. If left undiagnosed, Gorlin syndrome can have a number of negative consequences. Early diagnosis and good follow-up ...

Last Updated: 18 Jun 2014

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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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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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