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Genetic and Rare Diseases Information Center (GARD)

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Wolf-Hirschhorn syndrome


Other Names for this Disease
  • 4p syndrome
  • Chromosome 4p syndrome
  • Distal deletion 4p
  • Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation
  • WHS
More Names
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Your Question

My 37-year-old daughter has Wolf-Hirschhorn syndrome. As she has gotten older, her behaviors have gotten worse, which is stressful and frustrating. Her behaviors include alternating periods of aggression, excitement, depression, apathy, antisocial behavior, and anger. She also has sudden mood swings accompanied by bizarre behaviors such as pulling people's hair and clothes and swiping things of a table. Can you tell me if these are recognized symptoms of this syndrome? If so, can one do anything about them?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Are there any advocacy organizations for individuals and families with Wolf-Hirschhorn syndrome?

You might also consider contacting the following advocacy organizations.

The Wolf-Hirschhorn Syndrome Trust for the UK and Ireland provides information and support resources for individuals and families affected by WHS. You can visit the following Web site to learn more about this organization:

Wolf-Hirschhorn Syndrome Trust (UK)
Telephone: 0845-603-5338
E-mail: enquiries@whs4pminus.co.uk
Web site: http://www.whs4pminus.co.uk/

The 4p- Support Group provides information and support for children and families affected by Wolf-Hirschhorn syndrome and other related conditions.

4p- Support Group
131 Green Cook Road
Sunbury, OH 43074
E-mail: membership@4p-supportgroup.org
Web site: http://www.4p-supportgroup.org/
Last updated: 11/16/2011

Have cognitive-behavioral issues been reported in those with Wolf-Hirschhorn syndrome?

In general, Wolf-Hirschhorn syndrome (WHS) affects many parts of the body and is often characterized by a unique facial appearance, delayed growth and development, intellectual disability, and seizures.[1] Although the cognitive-behavioral features of individuals with WHS have not been studied systematically, a few studies have been performed that are beginning to look at these behavioral characteristics.

In one study, children with WHS were found to be more severely impacted cognitively and had lower overall adaptive behavior than children with other deletion syndromes. However, this study also found that children with WHS often have strengths in socialization skills and are less likely to have autistic-like features than children with other deletion syndromes.[2]

Another study, which examined a larger population of children, adolescents, and adults with WHS, found a very large range of cognitive-behavioral symptoms exhibit by individuals with WHS. Some individuals showed decreased communication and expressive language skills, while others showed advanced expressive language skills.[3]

A study of 12 children, ages 4-17 years, showed that cognitive deficits in affected individuals ranged from mild to severe; strengths were in verbal and quantitative reasoning and socialization. ADHD was seen in 7 out of 12 children and 1 child appeared to have mild autism.[4]

It is difficult to say whether the behavioral symptoms your daughter is expressing are related to WHS. The range of cognitive-behavioral symptoms has been shown to be very wide among individuals with WHS and some studies have shown more severe cognitive-behavioral issues than others. Given this, we recommend discussing your concerns with a genetics professional or your daughter’s personal health care provider if you have not done so already. Below, we have listed resources for finding a genetics professional in your community.
Last updated: 11/16/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013

References
  • Wolf-Hirschhorn syndrome. Genetics Home Reference Website. January 2009; http://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome. Accessed 11/16/2011.
  • Fisch GS, Grossfeld P, Falk R, Battaglia A, Youngblom J, Simensen R. Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions. Am J Med Genet C Semin Med Genet. November 2010; 154C(4):417-26. http://www.ncbi.nlm.nih.gov/pubmed/20981770. Accessed 11/16/2011.
  • Marshall AT. Impact of chromosome 4p- syndrome on communication and expressive language skills: a preliminary investigation. Lang Speech Hear Serv Sch. July 2010; 41(3):265-76. http://www.ncbi.nlm.nih.gov/pubmed/20421614. Accessed 11/16/2011.
  • Fisch GS, Battaglia A, Parrini B, Youngblom J, Simensen R. Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases. Am J Med Genet C Semin Med Genet.. November 2008; 148C(4):252-6. http://www.ncbi.nlm.nih.gov/pubmed/18932225. Accessed 11/16/2011.