Winchester syndrome is a rare hereditary connective tissue disease described in 1969,[3] of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal and tarsal bones (in the hands and feet, respectively), and osteoporosis.

Winchester syndrome was once considered to be related to a similar condition, multicentric osteolysis, nodulosis, and arthropathy (MONA).

Increased uronic acid is demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents.

Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis.

[citation needed] Symptoms of Winchester or MONA syndrome begin with the deterioration of bone within the hands and feet.

The eyes may develop a white or clear covering the cornea (corneal opacities) which can cause problems with vision.

[10] The typical diagnosis criteria begin with skeletal radiological test results and two of the defining symptoms, such as short stature, coarse facial features, hyperpigmentation, or excessive hair growth.

A complete skeletal radiographic survey is mandatory for diagnosis of Winchester or MONA syndrome together with a detailed musculoskeletal examination and craniofacial morphology assessment.

It has been reported that several affected individuals have lived to middle age; however, the disease is progressive and mobility will become limited towards the end of life.

[14] According to a recently published article, it was discovered that multicentric osteolysis, nodulosis, and arthropathy (MONA) and Winchester syndrome are different diseases.