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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General Support Organizations

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How do you compare to others with this condition?

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

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
 

Author(s): Linshan Shang, Lindsay B Henderson, Megan T Cho, Donald S Petrey, Chin-To Fong, Katrina M Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael, Jeffrey Innis, Jane Schuette, Yvonne W Wu, Shailesh Asaikar, Margaret Pearson, Leandra Folk, Kyle Retterer, Kristin G Monaghan, Wendy K Chung

Journal: Neurogenetics. 2016 Jan;17(1):43-9.

 

Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase and is involved in a broad range of cellular processes. PPP2R5D is a regulatory B subunit of PP2A and plays an important role in regulating key neuronal and developmental regulation processes such ...

Last Updated: 6 Jan 2016

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The significance of macrocephaly or enlarging head circumference in infants with the triad: further evidence of mimics of shaken baby syndrome.
 

Author(s): David Miller, Patrick Barnes, Marvin Miller

Journal: Am J Forensic Med Pathol. 2015 Jun;36(2):111-20.

 

Infants with the triad (neurologic dysfunction, subdural hematoma [SDH], and retinal hemorrhage) are often diagnosed as victims of shaken baby syndrome. Medical conditions/predisposing factors to developing the triad are often dismissed: short falls, birth-related SDH that enlarges, ...

Last Updated: 8 May 2015

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Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia.
 

Author(s): C Chianese, M G Fino, A Riera Escamilla, O López Rodrigo, S Vinci, E Guarducci, F Daguin, M Muratori, L Tamburrino, D Lo Giacco, E Ars, L Bassas, M Costa, V Pisatauro, I Noci, E Coccia, A Provenzano, E Ruiz-Castañé, S Giglio, P Piomboni, C Krausz

Journal: Andrology. 2015 Mar;3(2):203-12.

 

The aim of this study was to provide a comprehensive genetic/phenotypic characterization of subjects suffering infertility owing to sperm macrocephaly (n = 3) or globozoospermia (n = 9) and to investigate whether the patients' genetic status was correlated with the alteration of various ...

Last Updated: 24 Apr 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 "Macrocephaly" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
 

Status: Recruiting

Condition Summary: PTEN; ASD; Autism; Macrocephaly; PTEN Hamartoma Tumor Syndrome

 

Last Updated: 18 Feb 2016

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Last Updated: 3 Jun 2016

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