Wolf-Hirschhorn syndrome

Common Name(s)

Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is a genetic condition that affects many parts of the body. The major features include a characteristic facial appearance; delayed growth and development; intellectual disability; low muscle tone (hypotonia); and seizures. Other features may include skeletal abnormalities, congenital heart defects, hearing loss, urinary tract malformations, and/or structural brain abnormalities. WHS is caused by a missing piece (deletion) of genetic material near the end of the short (p) arm of chromosome 4 (written as 4p-). The size of the deletion varies among affected people, and studies suggest that larger deletions tend to result in more severe features. Most cases of WHS are not inherited, but some cases are inherited from an unaffected parent.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wolf-Hirschhorn syndrome" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wolf-Hirschhorn syndrome" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 "Wolf-Hirschhorn syndrome" returned 44 free, full-text research articles on human participants. First 3 results:

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.
 

Author(s): Lesley Hart, Anita Rauch, Antony M Carr, Joris R Vermeesch, Mark O'Driscoll

Journal: Dis Model Mech. 2014 May;7(5):535-45.

 

Wolf-Hirschhorn syndrome (WHS) represents an archetypical example of a contiguous gene deletion disorder - a condition comprising a complex set of developmental phenotypes with a multigenic origin. Epileptic seizures, intellectual disability, growth restriction, motor delay and hypotonia ...

Last Updated: 5 May 2014

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Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.
 

Author(s): Erica F Andersen, John C Carey, Dawn L Earl, Deyanira Corzo, Michael Suttie, Peter Hammond, Sarah T South

Journal: Eur. J. Hum. Genet.. 2014 Apr;22(4):464-70.

 

Wolf-Hirschhorn syndrome (WHS) is a complex genetic disorder caused by the loss of genomic material from the short arm of chromosome 4. Genotype-phenotype correlation studies indicated that the loss of genes within 4p16.3 is necessary for expression of the core features of the phenotype. ...

Last Updated: 13 Mar 2014

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Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf-Hirschhorn syndrome candidate 1/Twist pathway.
 

Author(s): Chih-Hsin Kuo, Kuei-Fang Chen, Shah-Hwa Chou, Ya-Fang Huang, Cheng-Ying Wu, Da-En Cheng, Yu-Wen Chen, Chih-Jen Yang, Jen-Yu Hung, Ming-Shyan Huang

Journal: Carcinogenesis. 2013 Nov;34(11):2600-9.

 

The interaction between tumors and their microenvironments leads to a vicious cycle, which strengthens both immune suppression and cancer progression. The present study demonstrates for the first time that tumor-associated dendritic cells (TADCs) are a source of resistin, which is ...

Last Updated: 30 Oct 2013

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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 "Wolf-Hirschhorn syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome.
 

Author(s): Anna M Paradowska-Stolarz

Journal: Adv Clin Exp Med. ;23(3):485-9.

 

Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek ...

Last Updated: 1 Jul 2014

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Keeping it simple: what mouse models of Wolf-Hirschhorn syndrome can tell us about large chromosomal deletions.
 

Author(s): Joshua M Abrams, Yang Jiao

Journal: Dis Model Mech. ;2(7-8):315-6.

 

Last Updated: 25 Jun 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.