The Symptoms of Winchester Syndrome

Winchester syndrome is an inherited, extremely rare connective tissue disorder. This syndrome causes the abnormal destruction of bone by the body. Bone destruction can occur in the ankles, wrists, elbows, eyes and teeth. Joint abnormalities can occur everywhere and the bones in the hands and feet may totally disappear.

Winchester syndrome is characterized by short stature (dwarfism), arthritis-like symptoms, nodules under the skin, coarse facial features like a protruding forehead, large nose, thick lips and gum overgrowth and eye and teeth abnormalities. The course facial features may get worse as the disease progresses. Pain is often present especially with movement and Osteoporosis can occur. The skin may become thick and leathery looking. Excessive body hair may also occur with this syndrome. Other problems that can arise from Winchester syndrome are heart murmurs, abnormal ECG's and corneal clouding that causes visual disabilities.

Winchester syndrome is possibly inherited as an autosomal recessive trait. This means that two copies of the gene are necessary for the disorder to occur. Both parents are carriers of the abnormal gene and this puts their children at risk for the condition. This doesn't necessarily mean that the child will develop the condition, but it does create a risk factor. There is a 25% chance that the child will develop the syndrome, a 50% chance that they will become carriers of the syndrome and a 25% chance that they won't be affected or be carriers. When any kind of illnesses is passed along as an autosomal recessive trait males and females are both affected equally.

Winchester syndrome was first described in 1969 in two sisters who were the children of first cousins. The children had skeletal deformities that resembled those of Rheumatoid Arthritis. The skeletal deformities and the severe joint pain are why Winchester syndrome is often mistaken for Juvenile Rheumatoid Arthritis.

Winchester syndrome is classified as one of the inherited osteolysis disorders. Many believed that it was one of the Mucopolysaccharide diseases because it has many similar features, but it isn't. Mucopolysaccharide diseases are caused by an enzyme deficiency that results in a buildup of molecules in connective tissues.

The treatment of Winchester syndrome is aimed only at relieving the symptoms because the syndrome cannot be stopped or reversed. Rheumatologists, Orthopedists, Ophthalmologists and Dermatologists are usually all involved in finding the right treatment plan. Physical and Occupational therapy may also be used for pain management and to increase mobility.

Only three cases of Winchester syndrome have been reported in the United States since the syndrome was described and only twelve cases have been reported worldwide in a 32 year period.