What is Winchester Syndrome & How is it Treated?

Winchester Syndrome is a very rare connective tissue disease which is believed to be caused due to absence or malfunction of some enzymes the function of which is to break down complex substances such as fats and sugars resulting in accumulation of these substances in the tissues especially of the brain and spinal cord resulting in symptoms specific for Winchester Syndrome.

An individual affected with Winchester Syndrome will have an abnormally short stature, pain in the joints similar to that of individuals who have chronic arthritis, distinct facial features, and ocular and teeth abnormalities.

The exact cause of this condition is not known but it is believed to follow an autosomal recessive trait meaning that two copies of the faulty gene one from each parent is required for the child to develop Winchester Syndrome.

As stated, the exact cause of Winchester Syndrome has still not been identified but it is believed to be caused by mutation in some genes responsible for making proteins which facilitate production of enzymes which break down complex substances such as fats and sugars to smaller units so that they can be absorbed by the body. This condition follows an autosomal recessive trait. Parents who are close relatives are more likely to have children than others with Winchester Syndrome.

The classic presenting feature of Winchester Syndrome is the presence of a short stature with distinct facial features. The child will also tend to have a flat nose and joints which will be extremely swollen and painful.

There will be stiffness of multiple joints with gradual deterioration of bone in a child affected with Winchester Syndrome. The deterioration of the bone will be especially in bones of the hands and feet.

There will also be certain ocular abnormalities seen with presence of cataracts. Recurrent ear infections are also a common feature of Winchester Syndrome.

Affected children will also tend to have an abnormally large tongue, malpositioned teeth, and more number of teeth than normal for the age as a result of Winchester Syndrome.

Additionally, children with Winchester Syndrome will also have thick skin with abnormally large amount of hairs on the surface of the skin. As the child grows, the calcium levels in the child will decrease and by the time the child reaches adulthood he or she may develop significant bone abnormalities as a result of depleted levels of calcium due to Winchester Syndrome.

In order to diagnose Winchester Syndrome, the following criteria needs to be fulfilled which are presence of a short stature, multiple joint contractures, presence of cataracts at an early age, distinct facial features, hyperpigmentation of the skin, excessive growth of hair on surface of the skin, and a leathery appearance of the skin. If an individual has all of these symptoms then it confirms the diagnosis of Winchester Syndrome.

There is no cure for Winchester Syndrome and the treatment is mostly symptomatic and supportive. The child may be given pain medications or antiinflammatories for pain in the joints or muscle relaxants for muscle spasms. For treatment of infections antibiotics may be prescribed. Insertion of myringotomy tubes may be considered in cases where ear infections become too frequent and severe.

Aggressive physical therapy is extremely useful to loosen up the stiff joints. Calcium supplementation will be recommended so as to minimize the complications arising out of calcium deficiency in bones. In some cases surgery may be required to correct certain skeletal deformities caused by Winchester Syndrome.