Weaver syndrome

Common Name(s)

Weaver syndrome

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome ({117550}), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by {2:Basel-Vanagaite, 2010}). The 'Weaver-like' syndrome reported by {22:Stoll et al. (1985)} in a mother and son may be a separate entity. Sotos syndrome ({117550}), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene ({601573}) on chromosome 5q35.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Wynne Foundation Inc.

Our mission at the Wynne Foundation Inc. is dedicated to supporting ongoing research of Weaver Syndrome and other genetic disorders. Our emphasis is focused on helping children and their families gain the education and support they need to live a better life and achieve independence.

www.wynnefoundation.org

Last Updated: 26 Mar 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Wynne Foundation Inc.

Our mission at the Wynne Foundation Inc. is dedicated to supporting ongoing research of Weaver Syndrome and other genetic disorders. Our emphasis is focused on helping children and their families gain the education and support they need to live a better life and achieve independence.

www.wynnefoundation.org

Last Updated: 26 Mar 2012

View Details

 

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 "Weaver syndrome" returned 10 free, full-text research articles on human participants. First 3 results:

Fine mapping for Weaver syndrome in Brown Swiss cattle and the identification of 41 concordant mutations across NRCAM, PNPLA8 and CTTNBP2.
 

Author(s): Matthew McClure, Euisoo Kim, Derek Bickhart, Daniel Null, Tabatha Cooper, John Cole, George Wiggans, Paolo Ajmone-Marsan, Licia Colli, Enrico Santus, George E Liu, Steve Schroeder, Lakshmi Matukumalli, Curt Van Tassell, Tad Sonstegard

Journal: PLoS ONE. 2013 ;8(3):e59251.

 

Bovine Progressive Degenerative Myeloencephalopathy (Weaver Syndrome) is a recessive neurological disease that has been observed in the Brown Swiss cattle breed since the 1970's in North America and Europe. Bilateral hind leg weakness and ataxia appear in afflicted animals at 6 to ...

Last Updated: 25 Mar 2013

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
 

Author(s): Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne Murray, Elizabeth R Perdeaux, Sheila Seal, Chey Loveday, Siddharth Banka, Carol Clericuzio, Frances Flinter, Alex Magee, Vivienne McConnell, Michael Patton, Wolfgang Raith, Julia Rankin, Miranda Splitt, Volker Strenger, Clare Taylor, Patricia Wheeler, Karen I Temple, Trevor Cole, , Jenny Douglas, Nazneen Rahman

Journal: Oncotarget. 2011 Dec;2(12):1127-33.

 

The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes. Weaver syndrome is a human overgrowth ...

Last Updated: 23 Jan 2012

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Mutations in EZH2 cause Weaver syndrome.
 

Author(s): William T Gibson, Rebecca L Hood, Shing Hei Zhan, Dennis E Bulman, Anthony P Fejes, Richard Moore, Andrew J Mungall, Patrice Eydoux, Riyana Babul-Hirji, Jianghong An, Marco A Marra, , David Chitayat, Kym M Boycott, David D Weaver, Steven J M Jones

Journal: Am. J. Hum. Genet.. 2012 Jan;90(1):110-8.

 

We used trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974. Filtering of rare variants in the affected probands against the parental variants identified two different de novo mutations in the ...

Last Updated: 16 Jan 2012

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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 "Weaver syndrome" 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 GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.