For more information please download our Guide to Winchester

What is 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

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 Multicentric Osteolysis with Nodulosis and  Arthropathy (MONA) 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.