Wolf-Hirschhorn syndrome

Common Name(s)

Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome is a genetic condition that causes unique facial features, delays in development, and learning issues (intellectual disability). The facial features include a high forehead, broad nasal bridge, wide-set eyes, abnormally shaped ears, and a small head (microcephaly). Doctors familiar with this condition say the face looks like a “Greek Warrior Helmet.” Other symptoms include low muscle tone (hypotonia), an opening in the roof of the mouth (cleft palate) or lip (cleft lip), height that is shorter than the rest of the family (short stature), skin problems, heart issues, and seizures. As a person ages, the seizures usually go away. The learning issues can be mild or severe and usually affect a person’s ability to communicate.

Wolf-Hirschhorn syndrome is caused by a loss (deletion) of genetic material (DNA) from the short arm of chromosome number four. The deletion is usually written as 4p-, as the short arm is referred to as the “p arm.” Since genetic instructions (genes) are located on chromosomes, the deletion causes a person to have many missing genes. The genes that are missing in the deletion that causes Wolf-Hirschhorn syndrome are important for early development. These missing genes are the cause of this condition. In the majority of cases, the deletion is new (de novo). However, in rare cases, an affected person inherits the deletion from an affected parent.

Wolf-Hirschhorn syndrome is usually considered in a child who has the unique facial features of the condition. These features are usually recognized by a doctor familiar with genetic conditions (geneticist). A test to look at the chromosomes is used to confirm the diagnosis. Treatment options include therapy to help with development and communication. If your child has been diagnosed with Wolf-Hirschhorn syndrome, talk with their doctor about all current treatment options. Support groups can provide additional information.

Source: Advocacy organizations associated with the condition.

 

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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General Support Organizations

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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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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 "Wolf-Hirschhorn syndrome" returned 55 free, full-text research articles on human participants. First 3 results:

Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome.
 

Author(s): Mohi Ahmed, Kiyoe Ura, Andrea Streit

Journal: Dis Model Mech. 2015 Sep;8(9):1027-35.

 

WHSC1 is a histone methyltransferase (HMT) that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS). The cardinal feature of WHS is a craniofacial dysmorphism, which ...

Last Updated: 24 Sep 2015

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[Diagnosis of Wolf-Hirschhorn syndrome by array-comparative genomic hybridization in an infant].
 

Author(s): Li-Ping Que, Li-Yang Liang, Zhe Meng, Xiang-Yang Luo, Rong-Qiong Ou, Le-Le Hou

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 Dec;16(12):1277-8.

 

Last Updated: 19 Dec 2014

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Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH).
 

Author(s): Alihossein Saberi, Gholamreza Shariati, Mohammad Hamid, Hamid Galehdari, Nehzat Abdorasouli

Journal: Arch Iran Med. 2014 Sep;17(9):642-4.

 

Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl ...

Last Updated: 10 Sep 2014

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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 Genetics Home Reference.

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.