Wolf-Hirschhorn syndrome

Common Name(s)

Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome is a genetic condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions. Most cases of this disorder are not inherited, although sometimes Wolf-Hirschhorn syndrome is 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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CNS Foundation

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

Last Updated: 12 Oct 2013

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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
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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

[Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process].
 

Author(s): Raquel Blanco-Lago, Ignacio Málaga, Juan José García-Peñas, Adrián García-Ron

Journal: Rev Neurol. 2013 Jul;57(2):49-56.

 

Wolf-Hirschhorn syndrome (WHS) is a chromosome pathology produced by a deletion in the distal region of the short arm of chromosome 4. It is characterised by the presence of a peculiar phenotype, delayed growth, delayed psychomotor development and epilepsy.

Last Updated: 9 Jul 2013

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Letm1, the mitochondrial Ca2+/H+ antiporter, is essential for normal glucose metabolism and alters brain function in Wolf-Hirschhorn syndrome.
 

Author(s): Dawei Jiang, Linlin Zhao, Clary B Clish, David E Clapham

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Jun;110(24):E2249-54.

 

Mitochondrial metabolism, respiration, and ATP production necessitate ion transport across the inner mitochondrial membrane. Leucine zipper-EF-hand containing transmembrane protein 1 (Letm1), one of the genes deleted in Wolf-Hirschhorn syndrome, encodes a putative mitochondrial Ca(2+)/H(+) ...

Last Updated: 12 Jun 2013

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Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.
 

Author(s): Carlos A Venegas-Vega, Fernando Fernández-Ramírez, Luis M Zepeda, Karem Nieto-Martínez, Laura Gómez-Laguna, Luz M Garduño-Zarazúa, Jaime Berumen, Susana Kofman, Alicia Cervantes

Journal: Biomed Res Int. 2013 ;2013():209204.

 

The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, ...

Last Updated: 13 Mar 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 1 free, full-text review articles on human participants. First 3 results:

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.