Winchester syndrome

Winchester syndrome is a rare genetic disorder characterized by progressive osteolysis, or the breakdown of bone tissue, particularly affecting the hands and feet. This condition is part of a group of disorders known as lysosomal storage diseases.

Genetics

Winchester syndrome is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. The specific gene associated with Winchester syndrome is the MMP2 gene, which encodes the enzyme matrix metalloproteinase-2. This enzyme is involved in the breakdown of extracellular matrix components, which is crucial for normal bone remodeling and tissue repair.

Structure of the MMP2 protein, which is implicated in Winchester syndrome.

Clinical Features

Individuals with Winchester syndrome typically present with symptoms in early childhood. The primary clinical features include:

• Progressive osteolysis of the phalanges and carpals
• Joint contractures
• Short stature
• Coarse facial features
• Hyperpigmentation of the skin

Diagnosis

Diagnosis of Winchester syndrome is based on clinical evaluation, radiographic findings, and genetic testing. Radiographs typically show severe osteolysis and osteopenia. Genetic testing can confirm mutations in the MMP2 gene.

Management

There is currently no cure for Winchester syndrome, and treatment is primarily supportive. Management strategies may include:

• Physical therapy to maintain joint mobility
• Orthopedic surgery to correct deformities
• Pain management

Prognosis

The prognosis for individuals with Winchester syndrome varies. The condition is progressive, and the severity of symptoms can differ significantly among affected individuals. Early intervention and supportive care can improve quality of life.

Related pages

• Lysosomal storage disease
• Osteolysis
• Genetic disorder