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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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 "Weaver syndrome" returned 11 free, full-text research articles on human participants. First 3 results:

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
 

Author(s): Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M Bird, Carol L Clericuzio, Valerie Cormier-Daire, Tom Cushing, Frances Flinter, Marie-Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I Karen Temple, Trevor Cole, Sheila Seal, , Nazneen Rahman

Journal: Am. J. Med. Genet. A. 2013 Dec;161A(12):2972-80.

 

Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause Weaver syndrome. To date, we have identified 48 individuals ...

Last Updated: 22 Nov 2013

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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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Reviews from the PubMed Database

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The terms "Weaver syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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