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Winchester Syndrome

Inherited bone disorder


Updated March 26, 2006

Winchester syndrome is an inherited bone disorder in which bone is abnormally destroyed by the body. In the 32-year period from 1969-2001, just 12 cases of Winchester syndrome were published in the medical literature. It is difficult, then, to know how often the syndrome actually occurs. In the published cases, more females than males were affected, and those people were from many different ethnic backgrounds.

Winchester syndrome affects several different body systems.

  • Bones and joints – painful joints and limited mobility, short stature, osteoporosis (weak bones), joint that don’t fully move (contractures), deformed hands and feet, changes in the spine
  • Skin – coarsening of facial features including large fleshy nose and thick lips; thickened, leathery skin on the trunk and limbs
  • Eyes – cataracts
  • Mouth – overgrowth (hypertrophy) of the gums

Because Winchester syndrome occurs very rarely, it may be difficult to correctly identify. The characteristic bone and joint changes of the syndrome are usually noted when the child is about 1 year old. The painful joints and limited mobility may be mistaken for juvenile rheumatoid arthritis (JRA).

A blood test can be done to rule out JRA and other inherited disorders, but there is no specific blood test for Winchester syndrome. Examination of the skeleton by x-ray is the most helpful test to determine if Winchester syndrome exists. Generalized osteoporosis, as well as destruction of bones in the hands and feet, are present. Skin and gum tissue samples (biopsy) are taken and examined under a microscope for changes characteristic of Winchester syndrome.

There is no treatment available to stop or reverse Winchester syndrome, so treatment focuses on relieving symptoms. Consultation with specialists such as a rheumatologist (arthritis doctor), an orthopedist (bone doctor), an ophthalmologist (eye doctor), and a dermatologist (skin doctor), among others, will help determine the most effective treatments for each individual.

Individuals with Winchester syndrome will most likely have difficulty with movement and activity due to the joint pain and stiffness caused by the syndrome. Physical and occupational therapy can help maintain flexibility and provide adaptive equipment to meet an individual’s needs.

Last updated 3/25/06

Schwartz, R.A., & Urban, J.E. (2005). Winchester syndrome. eMedicine, accessed at http://www.emedicine.com/derm/topic720.htm

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