Winchester syndrome: Difference between revisions

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{{DISPLAYTITLE:Winchester Syndrome}}


'''Winchester syndrome''' is a rare [[congenital disorder|congenital]] [[connective tissue disease]] described in 1969.  
'''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]].


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==Genetics==
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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]].
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==Other Names ==
[[File:PBB_Protein_MMP2_image.jpg|thumb|right|Structure of the MMP2 protein, which is implicated in Winchester syndrome.]]
Winchester disease; Winchester-Grossman Syndrome


== Mechanism ==
==Clinical Features==
* Winchester syndrome is believed to be inherited through [[Autosomal recessive|autosomal recessive inheritance]].
Individuals with Winchester syndrome typically present with symptoms in early childhood. The primary clinical features include:
* MM2 is responsible for bone remodeling.
* Bone remodeling is the process in which old bone is destroyed so that new bone can be created to replace it. This mutation causes a multicentric osteolysis and arthritis syndrome.
* It is hypothesized that the loss of an upstream MMP-2 protein activator MT1-MMP, results in decreased MMP-2 activity without affecting ''MMP2''. The inactivating homoallelic mutation of ''MT1-MMP'' can be seen at the surface of [[fibroblast]]s.
* It was determined that fibroblasts lacking MT1-MMP lack the ability to degrade [[type I collagen]] which leads to anomalous function.


== Symptoms ==
* Progressive [[osteolysis]] of the [[phalanges]] and [[carpals]]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
* [[Joint contractures]]
* [[Short stature]]
* [[Coarse facial features]]
* [[Hyperpigmentation]] of the skin


== Diagnosis ==
==Diagnosis==
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.


== Treatment ==
==Management==
There is no known cure for Winchester syndrome; however, there are many therapies that can aid in the treatment of symptoms. Such treatments can include medications: anti-inflammatories, muscle relaxants, and antibiotics. Many individuals will require physical therapy to promote movement and use of the limbs affected by the syndrome. Genetic counseling is typically prescribed for families to help aid in the understanding of the disease. There are a few clinical trials available to participate in. The prognosis for patients diagnosed with Winchester syndrome is positive. 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. Eventually, the [[contracture]]s will remain even with medical intervention, such as surgery.
There is currently no cure for Winchester syndrome, and treatment is primarily supportive. Management strategies may include:


== See also ==
* [[Physical therapy]] to maintain joint mobility
*[[Multicentric carpotarsal osteolysis syndrome]]
* [[Orthopedic surgery]] to correct deformities
* [[Pain management]]


[[Category:Inborn errors of metabolism]]
==Prognosis==
[[Category:Metabolic disorders]]
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.
[[Category:Connective tissue diseases]]
 
[[Category:Rare syndromes]]
==Related pages==
* [[Lysosomal storage disease]]
* [[Osteolysis]]
* [[Genetic disorder]]
 
[[Category:Genetic disorders]]
[[Category:Lysosomal storage diseases]]

Revision as of 05:38, 16 February 2025


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:

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:

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

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