Winchester syndrome

Short stature, severe joint contractures, peripheral corneal opacities, coarse facies, dissolution of carpal and tarsal bones, osteoporosis

Also Known As:

Winchester disease; Winchester-Grossman disease; Winchester-Grossman syndrome

Networked: 6 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Winchester syndrome: 6
Musculoskeletal Diseases: 719
Eye Diseases: 3522
- Corneal Diseases: 916
  - Corneal Opacity: 1091
    - Winchester syndrome: 6
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Growth Disorders: 2264
    - Winchester syndrome: 6
Musculoskeletal and Neural Physiological Phenomena
- Musculoskeletal Physiological Phenomena
  - Bone Remodeling
    - Bone Resorption: 17715
      - Osteolysis: 4253
        Winchester syndrome: 6
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Metabolic Bone Diseases: 6245
    - Osteoporosis: 36588
      - Winchester syndrome: 6

Related Diseases

1.	Osteolysis
2.	Osteolysis hereditary multicentric
3.	Hajdu-Cheney Syndrome (Multicentric Osteolysis)
4.	Joint Diseases (Joint Disease)
5.	Arthritis (Polyarthritis)

Experts

1.	Camacho, Catalina: 1 article (09/2012)
2.	Evans, Brad R: 1 article (09/2012)
3.	Glucksman, Marc J: 1 article (09/2012)
4.	Grum-Tokars, Valerie: 1 article (09/2012)
5.	Lobl, Mollie: 1 article (09/2012)
6.	Martignetti, Chiara R: 1 article (09/2012)
7.	Martignetti, John A: 1 article (09/2012)
8.	Mosig, Rebecca A: 1 article (09/2012)
9.	Bonafé, Luisa: 1 article (02/2007)
10.	Fishman, David A: 1 article (02/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Winchester syndrome:

1.	10-N-nonylacridinium orange (NAO)IBA 03/01/2006 - "Our study results are consistent with the involvement of MMP2 in Winchester syndrome and with the hypothesis that Winchester and NAO syndromes are allelic disorders that form a continuous clinical spectrum. " 02/01/2007 - "Torg, NAO, and Winchester syndrome are allelic disorders. " 02/01/2007 - "Our findings suggest that Torg, NAO, and Winchester syndrome are allelic disorders. " 02/01/2007 - "MMP2 mutations were previously identified in patients with NAO and Winchester syndrome. " 02/01/2007 - "Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome."
2.	Matrix Metalloproteinase 2 (Gelatinase A)IBA 03/01/2005 - "Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2." 02/01/2007 - "Recently, mutations in the matrix metalloproteinase 2 gene (MMP2) have been reported in patients with NAO and Winchester syndrome. "
3.	OligosaccharidesIBA 09/01/1989 - "As reported in a previous paper an abnormal oligosaccharide was detected in urine of patients but the pathological significance of this oligosaccharide must be discussed and its finding in patients with Winchester syndrome does not lead to further elucidation of the aetiology of this condition. " 11/01/1987 - "Two cases of Winchester syndrome: with increased urinary oligosaccharide excretion."
4.	Matrix Metalloproteinase 14 (MT1-MMP)IBA 09/07/2012 - "Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome."
5.	Metalloproteases (Metalloproteinases)IBA 09/07/2012 - "Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome."