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.

• Weakness

  Different kinds of bone problems include Low bone density and osteoporosis, which make your bones weak and more likely to break Osteogenesis imperfecta makes your bones brittle Paget's disease of bone makes them weak Bones can also develop cancer and [medlineplus.gov]

  Weakness. You may experience weakness in your hand and drop objects. This may be due to the numbness in your hand or weakness of the thumb’s pinching muscles, which are also controlled by the median nerve. [winchesterrad.com]

  It will help protect their bones from getting weak. Prevention There are no known guidelines to prevent this health problem. [winchesterhospital.org]

  Symptoms include weakness, tingling and pain in the wrist and hand. Ganglion cyst – Formation of a small fluid-filled lump in a hand or wrist. [circlehealthgroup.co.uk]

  Details included are company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, global presence, production sites and facilities, company strengths and weaknesses, product [databridgemarketresearch.com]

• Fatigue

  Your Search Criteria > within 25 miles Chronic Fatigue Syndrome MapFilters All A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Last name begins with ALL FILTERS Specialty Insurance MedicareMedicaid Years Experience Distance Conditions Treated Chronic [doctor.webmd.com]

  Other RLS patients really find that their lives are blighted by the condition – sleep disturbance at night, with the resultant daytime fatigue, is a major issue for lots of people; and many have had to give up jobs involving driving, or another activity [winchestergp.com]

  If you are dealing with excessive fatigue and exhaustion throughout the day, if you don’t feel refreshed after a full night’s rest, if you snore loudly or if you feel like you are tossing and turning throughout the night it’s a good idea to see a sleep [winchesterneurological.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 [winchestergastro.com]

• Malnutrition

  Logan Christy, who had Down Syndrome, died from malnutrition, dehydration and pneumonia, according to an autopsy. Two Clark County parents are facing murder charges after their son with Down syndrome died from malnutrition and dehydration. [winchestersun.com]

  Complications Individuals with severe cases of dumping syndrome may experience weight loss and malnutrition. When people experience significant weight loss as the result of ongoing symptoms of rapid dumping they can develop a fear of eating. [winchestergastro.com]

  Feeding problems, malnutrition and protein-losing enteropathy are caused by the thickening and hyaline infiltration of intestinal walls. [ijdvl.com]

  […] osteoclastic activity at the time of drug treatment'.7 These have been termed 'zebra lines' in order to differentiate them from Harris growth arrest lines, which occur in the metaphyses of rapidly growing long bones following systemic disorders, e.g. malnutrition [scielo.org.za]

• Chronic Fatigue Syndrome

  Your Search Criteria > within 25 miles Chronic Fatigue Syndrome MapFilters All A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Last name begins with ALL FILTERS Specialty Insurance MedicareMedicaid Years Experience Distance Conditions Treated Chronic [doctor.webmd.com]

• 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]

• Diarrhea

  She did not have thickened skin but was malnourished and had been chronically unwell with multiple hospital admissions for recurrent episodes of pneumonia and diarrhea. [ijdvl.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 [winchestergastro.com]

  The symptoms can include high-pitched, inconsolable screaming, shaking, difficulty keeping any food down, fevers, vomiting or diarrhea, and stiff limbs, which leads to sudden jerking movements. [qz.com]

  see abetalipoproteinemia microtia, absent patellae, micrognathia syndrome, see Meier-Gorlin syndrome microvillous atrophy, see microvillus inclusion disease microvillous inclusion disease, see microvillus inclusion disease microvillus atrophy with diarrhea [herenciageneticayenfermedad.blogspot.com]

• 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]

• Joint Stiffness

  The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes. [ncbi.nlm.nih.gov]

  Aim: Winhester is a complex and rare syndrome which includes osteolysis, progressive painful artropathy with joint stiffness, contractures of distal phalanges which have negative effect on rehabilitation programme. [nmd-journal.com]

  […] mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis - Wrist / carpal anomalies Frequent - Coarse face - Corneal clouding / opacity / vascularisation - Frontal bossing / prominent forehead [csbg.cnb.csic.es]

• 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]

• Fear

  When people experience significant weight loss as the result of ongoing symptoms of rapid dumping they can develop a fear of eating. [winchestergastro.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]

• Forgetful

  “in character” so to speak, but he never really expected dean to keep up the charade THIS long. he doesnt say anything, however, because he selfishly doesnt like seeing dean flirt with anyone else. and for a while. its good. its really good. and cas forgets [tumblr.com]

• Irritability

  Safety and tolerability of aripiprazole for irritability in pediatric patients with autistic disorder: A 52-week, open-label, multicenter study. J Clin Psychiatry. 2011;72(9):1270-1276. Mattila ML, Hurtig T, et al. [winchesterhospital.org]

• Unable to Walk

  He was unable to walk without assistance, due to flexion deformities of the right knee and elbow. Radiographs revealed generalised skeletal lucency with absence of the carpal bones in the right wrist and destruction of the right elbow joint. [scielo.org.za]

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.