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Wolf-Hirschhorn syndrome

Also known as: Chromosome 4p- syndrome, Pitt-Rogers-Danks syndrome, 4p- syndrome

Background

Wolf-Hirschhorn syndrome is a rare chromosome disorder. The syndrome is caused by a missing section (deletion) of genetic information from the tip of the short arm of chromosome 4.

Credits

Last updated August 2015 by Dr O Quarrell, Consultant in Clinical Genetics, Department of Clinical Genetics, Sheffield, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

What are the symptoms?

There is a wide variation in the degree of problems seen in this condition. Children with Wolf-Hirschhorn usually have:

Affected individuals tend to have similar facial features. These may include a broad bridge to the nose, wide-spaced eyes and a small chin.

Learning difficulties (see entry Learning Disability) are variable and can be moderate to severe.

Children with Wolf-Hirschhorn syndrome may be born with some other congenital problems. The most commonly recognised include: cleft lip and/or palate, congenital heart disease, (see entry Heart Defects), kidney problems (see entry Kidney disease), eye anomalies such as coloboma, undescended testes and hypospadias.

What are the causes?

Wolf-Hirschhorn syndrome is caused by a missing section (deletion) of genetic information from the tip of the short arm of chromosome 4. Some children have a deletion of genetic material from the tip of chromosome 4 which is replaced by extra material from another chromosome - this is called an unbalanced translocation (unbalanced rearrangement). It is the loss of genetic material that causes the features of this condition and is usually more important than gain of extra material from another chromosome.

How is it diagnosed?

A blood sample is taken. The loss of genetic material used to be seen using a microscope but nowadays, microarray comparative hybridisation (array-CGH) and fluorescent in situ hybridisation (FISH) are the techniques used.

Once a child has been diagnosed, the chromosomes of the parents should be checked. These will be normal in the majority of cases, indicating that the deletion or unbalanced translocation occurred by chance (sporadic). In the remaining cases, there may be a chromosome translocation (rearrangement) which one parent may carry in a balanced form.

How is it treated?

Management of the condition is aimed at alleviating any symptoms and supporting those affected so they can reach their full potential. There is no cure for the condition. Epilepsy may be treated with anticonvulsant medication. In some cases a feeding tube is put into the stomach. Specialist support in education will be required. Heart defects, kidney problems or eye problems will need to be assessed and managed by the appropriate specialist. It is difficult to make a prediction but some children survive well into adulthood. Although treatment is symptomatic and supportive it may help if the local doctor makes periodic medical checks; for example, simple checks of kidney function.

Inheritance patterns and prenatal diagnosis

Inheritance patterns

If the loss of genetic material is sporadic, a couple's chance of having another affected child is low (less than 1%). In the cases in which one parent carries the rearrangement (translocation) in a balanced form, the chance of having a second affected child is assessed on an individual basis. Information and support is available for affected families through a genetics centre.

Prenatal diagnosis

Chorionic villous sampling from 11 weeks of pregnancy and amniocentesis from 15 weeks of pregnancy are available. If one parent has a translocation in a balanced form then pre-implantation genetic diagnosis may be possible but the couple have to meet certain criteria to access NHS funding for this treatment.

Is there support?

Wolf-Hirschhorn Syndrome Support Group

Tel: 07917 334407
Email: sdall04@yahoo.com
www.whs4pminus.co.uk

The Group is a Registered Charity in England and Wales No. 1038219. It provides information and support to families affected by Wolf Hirschhorn Syndrome and holds a national meeting every two years.

Group details last updated May 2017.

Talk to other families about your child's condition

Visit our online Wolf-Hirschhorn syndrome group

Visit our online advice and support or read all about diagnosis.


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