• 1: Home
• 2: MPS Diseases
  • 2.1: Overview of symptoms
  • 2.2: Overview of treatment
  • 2.3: Which are the MPS Diseases
    • 2.3.1: MPS I
    • 2.3.2: MPS II
    • 2.3.3: MPS III
    • 2.3.4: MPS IVA
    • 2.3.5: MPS IVB
    • 2.3.6: MPS VI
    • 2.3.7: MPS VII
    • 2.3.8: MPS IX
    • 2.3.9: ML I
    • 2.3.10: ML II and III
    • 2.3.11: ML IV
    • 2.3.12: Fucosidosis
    • 2.3.13: Mannosidosis
    • 2.3.14: Sialic Acid Storage Disease
    • 2.3.15: MSD
    • 2.3.16: AGU
    • 2.3.17: Winchester
    • 2.3.18: Geleo Physic Dysplasia
  • 2.4: Personal stories
• 3: Fabry Disease
• 4: Advocacy Support
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• 30: Terms and Conditions

Winchester Syndrome

Winchester Syndrome is an inherited bone disorder. Although it is not one of the mucopolysaccharidosis it has many features in common with MPS disorders. Whilst there is no cure for individuals affected by Winchester Syndrome this fact sheet explores the disease’s presentation and clinical management.

How common is Winchester Syndrome?

Between 1969-2001, only 12 cases of Winchester Syndrome were reported worldwide. It appears that Winchester is more common in females than males with a female to male ratio of 3:1 (nine females, three males).

What causes Winchester Syndrome?

Winchester Syndrome is caused by an alteration in a gene called MMP2. Two very similar conditions called Torg Syndrome and Nodulosis-Arthropathy-Osteolysis are caused by alterations in the same gene.

How is Winchester Syndrome inherited?

Winchester Syndrome is an autosomal recessive disease; both parents must carry the same defective gene and each pass this same defective gene to their child. Where both parents are carriers of the Winchester gene there is a 25% (1:4) chance of having an affected child with each pregnancy. There is a 50% (1:2) chance of a child receiving only one copy of the defective gene and therefore being a carrier.

A carrier will not be affected but can pass the defective gene to his/her offspring. The remaining 25% (1:4) will be neither affected nor a carrier. Using information from an affected individual’s DNA, it may be possible to determine whether brothers and sisters are carriers of, or affected by, Winchester.

Genetic counselling

All parents of children with a lysosomal storage disease should consider asking for genetic counselling before having other children. The counsellor should be able to provide non-directive advice on the risk to close relatives, reproductive choices available and to suggest whether the wider family should be informed.

All families of affected children should seek further information from their doctor or from a genetic counsellor before planning to have more children. There is a more detailed explanation of this complex subject in a booklet available from the MPS Society on the Pattern of Inheritance in MPS diseases. Please visit our Information Resource section.

Can you test for Winchester Syndrome in pregnancy?

If you have a child with Winchester and the altered gene is known in your family, it may be possible to have tests during any subsequent pregnancy to find out whether the foetus is affected. It is important for the gene testing to be carried out before you become pregnant and you can then discuss these results with your local genetics team. If testing is possible in your family it is important to contact your doctor as soon as you suspect that you may be pregnant if you wish for tests to be arranged.

Further information

There is a detailed fact sheet on Winchester Syndrome produced by the MPS Society in collaboration with parents and doctors drawing on their experience and with reference to medical literature. The fact sheet includes detailed information on the presentation and clinical management of the disease and treatment options available. Please visit our Information Resource section.