Winchester syndrome (WS) is a part of an inheritable group of disorders called osteolysis syndromes. It is known to primarily affect the hands and feet, before involving the rest of the skeleton, and is carried in an autosomal recessive pattern. Two other disorders share a similar pathological pattern: Torg syndrome and nodulosis arthropathy osteolysis (NAO) syndrome. Because these conditions have several common features, they have been considered to be part of the same clinical spectrum. WS and Torg syndrome is referred as one disease by some, and NAO is regarded as a variant of the same. All aforementioned conditions are mediated by mutations in the matrix metalloproteinase (MMP) 2 gene, which leads to reduced activity of matrix metalloproteinases.

The first signs of the disease appear in infancy, and their distribution is symmetrical [1]. The skeletal system is the most affected, as the main feature of WS is marked lysis of the bones in the hands and feet. In addition, skeletal deformities, as well as osteoporosis in other bones, has been reported [2]. Patients may also display coarse facial features, and suffer from visual disturbances due to corneal opacification [3] [4] [5].

Other non-skeletal findings include contracture formation, subcutaneous nodules (these appear on the hands), hyperpigmentation, skin thickening, lichenification and banding, abnormally excessive body hair growth (hypertrichosis), myocardial damage, and gum hypertrophy [6] [7].

Arthralgia and loss of function of joints in the hands is a documented complaint. Initially, findings may be almost identical to those of rheumatic arthritis.

• Disability

  " (Technology Related Assistance for Individuals with Disabilities Act, 1988, Sta. ‎ [books.google.de]

  […] tab=Main Associations-Gifted and Talented National Association of Gifted Children (USA) – http://www.nagc.org Disabled (Examples-permanent or temporary condition resulting from illness or congenital disorder) Gulf Disability Society - http://www.gulfdisability.com [thewinchesterschool.com]

  Don’t miss our booklist at the bottom of the page; it highlights Amy’s new book as well as other resources that celebrate disability pride. [winpublib.org]

  During the past two months, Grafton has launched a campaign to ensure that no disabled child is overlooked. [grafton.org]

• Atrial Septal Defect

  septal defect / interauricular communication - Subcutaneous nodules / lipomas / tumefaction / swelling [csbg.cnb.csic.es]

  About one third of those affected with Winchester syndrome are born with a heart defect; these heart defects may include transposition of the great arteries, atrial septal defect, ventricular septal defect, bicuspid valves, or mitral valve prolapse. [rarediseases.org]

  Congenital heart defects (transposition of great arteries, atrial septal defect, ventricular septal defect, bicuspid aortic valve, and mitral valve prolapse) have been observed in one third of individuals reported to date [ Tuysuz et al 2009, Castberg [ncbi.nlm.nih.gov]

• Trisomy 21

  18 (Edward) (.1842) Trisomy 21 (Down) (.184) Turner syndrome (.1851) U Uhl anomaly (.1936) V Van Buchem disease (.1555) W Waldenstrom macroglobulinemia (.349) Wegener granulomatosis (.622) Weill-Marchesani syndrome (.1722) Werner syndrome (4.822) (7.7621 [bonepit.com]

• Surgical Procedure

  The majority of individuals that experience dumping symptoms have had a surgical procedure that removes part of the stomach or bypasses it such as a gastrectomy (removal of the stomach) or gastric bypass Roux-en-Y surgery (which reroutes the digestive [winchestergastro.com]

• Gingival Hypertrophy

  […] syndrome Joe Segen 2016-11-28T07:07:36+00:00 ORTHOPAEDICS An autosomal recessive disorder (OMIM:259600) characterised by generalised osteolysis and osteopenia, coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gingival [newmedicalterms.com]

  An autosomal recessive syndrome (OMIM:259600) characterised by generalised osteolysis and osteopenia, coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gingival hypertrophy. [medical-dictionary.thefreedictionary.com]

• Skin Patch

  Skin findings have further been segmented into darkened patches of skin and over growth of hair on the skin. The gender segment of the Torg-Winchester syndrome market can be segmented into male and female. [databridgemarketresearch.com]

  Lastly, skin findings include thickened hyperpigmentation such as thick and darkened patches of skin and/or over growth of hair on the skin (hirsutism). [rarediseases.org]

• Corneal Opacity

  Skip to content Torg-Winchester syndrome Joe Segen 2016-11-28T07:07:36+00:00 ORTHOPAEDICS An autosomal recessive disorder (OMIM:259600) characterised by generalised osteolysis and osteopenia, coarse face, corneal opacities, patches of thickened, hyperpigmented [newmedicalterms.com]

  The syndrome is characterized by dissolution of carpal and tarsal bones with generalized osteoporosis, progressive joint contractures, short stature, peripheral corneal opacities, and coarse facial features, though there is variability within the clinical [ncbi.nlm.nih.gov]

  Various additional features include coarse face, corneal opacities, gum hypertrophy, and EKG changes. Wikipedia : 76 Winchester syndrome is a rare congenital connective tissue disease described in 1969, of which the main... more... [malacards.org]

• Osteoporosis

  On the basis of usefulness of pamidronate in conditions with osteoporosis, we hypothesized that the drug will improve osteolysis and/or osteoporosis in this condition. [ncbi.nlm.nih.gov]

  Key words: Winchester Syndrome; Osteoporosis; Osteolysis [bibliomed.org]

• Fracture

  In this paper, we aimed to present the conservative treatment of radial shaft fracture at a patient with Torg-Winchester Syndrome. [scopemed.org]

  Hip fracture resources for patients, providers, therapists and home health professionals: Hip fracture pathway Post-acute hip fracture treatment plan Post-acute hip fracture progress assessment Learn More For more information about orthopedic services [valleyhealthlink.com]

  (a) Generalized severe osteoporosis of vertebrae with compression fracture of L4-5 vertebral bodies is noted. [nature.com]

  As a result of the severe shortening of the left leg, he sustained 3 fractures of his left femur. The first fracture was stabilized by an intramedullary rod; later the rod protecting the femur against fracture was removed. [ped-rheum.biomedcentral.com]

  A 15-year-old male, a known case of Winchester syndrome with distal left femur fracture was scheduled for intramedullary nailing. He had a history of seizure disorder since birth for which he was on oral medication. [journals.lww.com]

• Osteopenia

  Skip to content Torg-Winchester syndrome Joe Segen 2016-11-28T07:07:36+00:00 ORTHOPAEDICS An autosomal recessive disorder (OMIM:259600) characterised by generalised osteolysis and osteopenia, coarse face, corneal opacities, patches of thickened, hyperpigmented [newmedicalterms.com]

  An autosomal recessive syndrome (OMIM:259600) characterised by generalised osteolysis and osteopenia, coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gingival hypertrophy. [medical-dictionary.thefreedictionary.com]

  Global Torg-Winchester Syndrome Market, By Symptoms (Multifocal Osteoporosis, Progressive Osteolysis, Osteopenia, Arthropathy, Congenital Heart Defects, Coarse Facial Features, Corneal Opacities, Skin Findings), Gender (Male, Female), Diagnosis (Clinical [databridgemarketresearch.com]

  Osteopenia and osteolysis At present no specific therapy can alleviate the progressive osteopenia. Assure that daily requirements of vitamin D and calcium are met. [ncbi.nlm.nih.gov]

• Arthralgia

  Arthralgia and loss of function of joints in the hands is a documented complaint. Initially, findings may be almost identical to those of rheumatic arthritis. No specific diagnostic tests are available for Winchester syndrome. [symptoma.com]

  The clinical and roentgenographic features of the present case are similar to those described by Winchester and associates[1] and Brown and Kuwabara[2]: onset in infancy of arthralgias and joint stiffening, dwarfism, peripheral corneal opacities, progressive [journals.lww.com]

• Visual Hallucination

  Perception: Visual hallucinations that patient often refers to as shadows or ghosts...” Sarah, referring to her husband and child: “I will mourn William and dear Annie always.” (0:35) Price: “I swear the Laudanum is still in my system. [behavenet.com]

• Seizure

  He had a history of seizure disorder since birth for which he was on oral medication. His older sibling also had the same genetic disorder. Apart from this, past/personal/birth/family history were all normal. [journals.lww.com]

  TOURISM DEVELOPMENT STRATEGY USING SWOT ANALYSIS IN SANGSAKA REGENCY, DISTRICT KUTAI TIMUR Siti Rizky Amalia, Anis Rachma Utary, Gusti Noorlitaria Achmad An automatic diagnosis of epileptic seizure based on optimization using Electroencephalography Signals [bibliomed.org]

  […] of infancy migrating partial seizures in infancy, see malignant migrating partial seizures of infancy migrating partial seizures of infancy, see malignant migrating partial seizures of infancy milk sugar intolerance, see lactose intolerance Miller syndrome [herenciageneticayenfermedad.blogspot.com]

  Medication Drugs to help control symptoms may include: Stimulants Mood-altering drugs Drugs to control seizures Antipsychotic medication Serotonin selective reuptake inhibitors (SSRIs) Alternative Therapies The supplement melatonin may be helpful in improving [winchesterhospital.org]

  Babies born with NAS suffer from short-term health problems for up to six months after birth (including diarrhea, vomiting, high fevers, and seizures), as well as potential long-term behavior, developmental, and health consequences, many of which are [qz.com]

• Confusion

  Yet, the existing medical literature on arthrogryposis is sparse and often confusing. [books.google.de]

  Arthur Gates, ”What do you want, a prescription.” ”It’s said, in her grief, she turned to a medium..., but the medium may have taken advantage of her mental state.” ”What stands now is a gargantuan seven storied structure... each maze of halls more confusing [behavenet.com]

  Bloating Belching Nausea Abdominal pain, cramps Diarrhea Dizziness, lightheadedness When symptoms develop 1-3 hours after eating they may include: Weakness, fatigue Low blood sugar Sweating Diarrhea Shakiness Anxiety Heart palpitations Fainting Mental confusion [winchestergastro.com]

  […] dean to have forgotten about it entirely- maybe make an excuse about how he’ll go find it in his room later. but instead, dean just goes completely still and he- he takes the ring out of his pocket. the same ring from all those weeks ago. and cas is- confused [tumblr.com]

  It gives an opportunity to explore, and understand, feelings, thoughts, experiences and emotions which may be hidden, troubling or confusing without judgement, and with warmth and compassion. [psychologytoday.com]

• Abnormal Gait

  […] shaft Metabolic Abnormality Elevated IL1-beta Elevated IL6 Elevated antinuclear antibody (ANA) (speckled pattern) Performance Abnormal gait Skeletal Carpal osteolysis Fusiform finger swelling Interphalangeal joint erosions Osteoporosis Pes planus Show [datagenno.com]

  At the age of 18 months, her parents observed an abnormal gait and an element of contractures appeared. [ped-rheum.biomedcentral.com]

No specific diagnostic tests are available for Winchester syndrome. Biochemical studies that are requested are carried out in order to exclude metabolic and storage diseases such as mucopolysaccharidosis and mucolipidosis, as well as autoimmune disorders, particularly rheumatoid arthritis [1] [8].

As the primary pathological processes taking place are bone destruction and resorption, radiography is the chief investigation in cases of WS because it allows visualization of varying degrees of bone and joint pathology, which are in direct proportion to the duration of the illness. These appear on film as osteolytic lesions affecting carpal, metacarpal and phalangeal bones (and corresponding bones in the feet), as well as widespread reduced bone density. Further characteristic features include metaphyseal and epiphyseal abnormalities of the long bones and medullary cavity expansion. One of the overall results of the skeletal damage described is ankylosis.

Histological analysis of biopsy samples from skin lesions further consolidates the diagnosis. Basic histological images show elevated melanin and inflammatory cell levels in the deeper layers of the skin. Electron microscopy reveals fibroblast changes in form of abnormal mitochondria and various cell organelles.

Treatment There is no treatment available to stop or reverse Winchester syndrome, so treatment focuses on relieving symptoms. [checkorphan.org]

Specific medications that can help significantly are ropinrole (this is also used in the treatment of Parkinson’s disease) and its close relatives; they are licensed for the treatment of RLS. [winchestergp.com]

Full text links Group 7SearchHeart failure treatmentPapersTopicsCollectionsEffects of Sodium-Glucose Cotransporter 2 Inhibitors for the Treatment of Patients With Heart Failure Importance: Only 1 class of glucose-lowering agents-sodium-glucose cotransporter [read.qxmd.com]

Prognosis - Winchester syndrome Not supplied. Treatment - Winchester syndrome There is no treatment available to stop or reverse Winchester syndrome, so treatment focuses on relieving symptoms. [checkorphan.org]

Medicine and Research 2019 Using Simulation to Teach Echocardiography: A Systematic Review Simulation in Healthcare-Journal of the Society for Simulation in Healthcare 2018 Proposed mechanisms of relative bradycardia Medical Hypotheses 2018 Long-Term Prognosis [ufhealth.org]

Patient Epidemiology Analysis The Torg-Winchester syndrome market also provides you with detailed market analysis for patient analysis, prognosis and cures. [databridgemarketresearch.com]

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. [en.wikipedia.org]

Torg syndrome is a multicentric osteolysis syndrome of unknown etiology. We identified mutations in the MMP2 gene in a patient with Torg syndrome that resulted in complete loss of MMP2 activity. [ncbi.nlm.nih.gov]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.de]

The etiology is unknown. Parental consanguinity supports autosomal inheritance. The diagnosis is based on clinical and radiological manifestations. We describe a case in a 7-year-old Pakistani boy. [link.springer.com]

Patient Epidemiology Analysis The Torg-Winchester syndrome market also provides you with detailed market analysis for patient analysis, prognosis and cures. [databridgemarketresearch.com]

[…] telangiectasia Synonym(s): - Winchester syndrome Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue - Epidemiological [csbg.cnb.csic.es]

Mutat 2009;30:583 ) "Hyaline fibromatosis syndrome" proposed as an umbrella term for juvenile hyaline fibromatosis and infantile systemic hyalinosis since the two syndromes have significant clinicopathologic overlap ( J Am Acad Dermatol 2009;61:695 ) Epidemiology [pathologyoutlines.com]

Epidemiology Frequency United States In the United States, 3 cases were described. International Cases in 3 Mexican patients are described (published in the United States). [emedicine.medscape.com]

Pathophysiology Winchester syndrome is an autosomal recessive connective tissue disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene.[1] A 2006 study showed other mutations in the same gene, and observed that Winchester syndrome [wikidoc.org]

2018 International Expert Consensus Document on Takotsubo Syndrome (Part Ii): Diagnostic Workup, Outcome, and Management 2018 International Expert Consensus Document on Takotsubo Syndrome (Part I): Clinical Characteristics, Diagnostic Criteria, and Pathophysiology [ufhealth.org]

Pathophysiology Winchester syndrome appears to be inherited in an autosomal recessive manner. [2, 12] The specific cause of the changes has not been clarified. [emedicine.medscape.com]

The disease pathophysiology commences with intramedullary and subcortical radiolucent foci resembling patchy osteoporosis. It makes slow, irregular, local progress with a concentric shrinkage of the shafts of the bones. [ped-rheum.biomedcentral.com]

Prevention There are no known guidelines to prevent this health problem. [winchesterhospital.org]

Prevention You cannot always prevent dumping syndrome. Dietary adjustments may decrease the severity and prevent recurrences of your symptoms. Other Resources The Zone Diet® by Dr. Barry Sears or the South Beach Diet® by Dr. [winchestergastro.com]

Prevention - Winchester syndrome Not supplied. Diagnosis - Winchester syndrome Because Winchester syndrome occurs very rarely, it may be difficult to correctly identify. [checkorphan.org]

1. Prapanpoch S, Jorgenson RJ, Langlais RP, Nummikoski PV. Winchester syndrome. A case report and literature review. Oral Surg Oral Med Oral Pathol. 1992;74(5):671-677.
2. Sidwell RU, Brueton LA, Grabczynska SA, Francis N, Staughton RCD. Progressive multilayered banded skin in Winchester syndrome. J Am Acad Dermatol. 2004;50(2 Suppl): S53-S56.
3. Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet. 2002;113(1):65–77.
4. Zankl A, Bonafe L, Calcaterra V, Di Rocco M, Superti-Furga. A 2005 Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet. 2005;67(3): 261–266.
5. Zankl A, Pachman L, Poznanski A, et al. Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res. 2007;22(2):329–333.
6. Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A. 2007;143A(1):1-18.
7. Phadke SR, Ramirez M, Difeo A, Martignetti JA, Girisha KM. Torg-Winchester syndrome: lack of efficacy of pamidronate therapy. Clin Dysmorphol. 2007;16(2):95-100.
8. Nabai H, Mehregan AH, Mortezai A, Alipour P, Karimi FZ. Winchester syndrome: report of a case from Iran. J Cutan Pathol. 1977;4(5):281-285.