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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
 

Author(s): Aman George, Dina J Zand, Robert B Hufnagel, Ruchi Sharma, Yuri V Sergeev, Janet M Legare, Gregory M Rice, Jessica A Scott Schwoerer, Mariana Rius, Laura Tetri, David M Gamm, Kapil Bharti, Brian P Brooks

Journal: Am. J. Hum. Genet.. 2016 Dec;99(6):1388-1394.

 

Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, ...

Last Updated: 27 Nov 2016

Go To URL
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

Go To URL
A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome.
 

Author(s): Tobias Schwerd, Andrea V Khaled, Manfred Schürmann, Hannah Chen, Norman Händel, André Reis, Gabriele Gillessen-Kaesbach, Holm H Uhlig, Rami Abou Jamra

Journal: Eur. J. Hum. Genet.. 2016 Jun;24(6):889-94.

 

PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN activity has not been reported so far and animal models suggest that bi-allelic loss of PTEN ...

Last Updated: 12 May 2016

Go To URL

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.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

The Effects of Large Head MoM Hip Prosthesis on Soft Tissue: Study With 3 Tesla NMR
 

Status: Recruiting

Condition Summary: Prostheses and Implants

 

Last Updated: 1 Feb 2017

Go to URL
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 Jul 2017

Go to URL