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Winchester Syndrome

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Copyright 1993, 1998, 2002, 2005

Synonyms of Winchester Syndrome

Disorder Subdivisions

General Discussion

Winchester syndrome is an extremely rare connective tissue disorder believed by some scientists to be closely related to the mucopolysaccharidoses, which is a group of hereditary metabolic diseases caused by the absence or malfunction of certain enzymes, leading to the accumulation in cells and tissues of molecules that would normally be broken down into smaller units. This syndrome is characterized by short stature, arthritis-like symptoms, nodules under the skin (subcutaneous), coarse facial features, and eye and teeth abnormalities. Winchester syndrome is believed to be inherited as an autosomal recessive trait.


The principal signs of Winchester syndrome are short stature; coarse facial features; a flat nose; swollen joints; stiffening of joints (contractures); deterioration of (resorption) bone, particularly in the hands, feet, elbows, and knees; clouding of the corneas of the eyes (cataracts); recurring ear infections; heart murmur; and nodules under the skin, particularly on the arms and thighs. Patches of the skin may be more pigmented than is usual.

Affected individuals may have an enlarged tongue (macroglossia), irregularly spaced teeth, and more than the normal number of teeth for their age (supernumerary teeth).

The skin may become very thick and leathery, with excessive amounts of hair growing in the areas of darker skin coloring. The lips and gums are thickened, causing coarse facial features. As the child grows, short stature becomes apparent. During later childhood or adulthood, bones in the ankles and feet may weaken due to loss of calcium. The eyes may develop corneal opacities (a cloudy covering over the cornea) causing vision problems. The disorder leads to severe loss of motion in the joints. In most cases, mental functioning does not appear to be affected.

Age of onset varies from 3 months to 22 years. Typically, the syndrome becomes apparent around the age of two years. The child's joints become stiffened and painful, with swelling and redness. The areas affected most often are the fingers, elbows, knees and feet.


Winchester syndrome is an extremely rare disorder inherited as an autosomal recessive trait.

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Affected Populations

Since the original description of this syndrome in 1969, only about a dozen cases have been described in the medical literature. Those identified with the syndrome to date have included individuals of Mexican, Indian, Puerto Rican and Iranian descent. Additional affected individuals may be undiagnosed or misdiagnosed.

Related Disorders

Symptoms of the following disorders can be similar to those of Winchester syndrome. Comparisons may be useful for a differential diagnosis:

Juvenile arthritis is a relatively rare childhood disorder characterized by pain and deformity of the joints. Major symptoms may include swollen and painful joints, fever, skin rash, swollen lymph glands, an enlarged spleen and liver. (For more information on this disorder, choose "Juvenile Arthritis" as your search term in the Rare Disease Database.)

Farber disease is an inherited metabolic disorder that results in hoarseness, painful and swollen joints, nodules under the skin, and growths in the lungs and other parts of the body.

Nodulosis-arthropathy-osteolysis syndrome (NAO) is another disorder characterized by the disintegration of bony material, especially in the hands and feet. In common with Winchester syndrome, the joints in these areas (distal arthropathy) are painful, and nodules were present under the skin.

Scheie syndrome, one of the mucopolysaccharidoses, is characterized by joint limitations, inguinal hernias, a broad mouth with full lips, and clouding of the corneas.

Torg osteolysis syndrome, also known as hereditary multicentric osteolysis, is an extremely rare disorder, with only about 6-8 cases reported. The bones of the hands and feet (carpal and tarsal bones) deteriorate, the long bones become thinner and weaker than usual, and the joints of elbows, knees and hips stiffen and become fixed. Inheritance is autosomal recessive.

Standard Therapies

Diagnostic criteria for Winchester syndrome were developed to include characteristic skeletal radiologic findings plus at least two of the following signs: short stature, progressive fusion (contractures) of the joints, cataracts, coarse facial features, darkened patches of skin (hyperpigmentation), and the growth of hair in the leathery patches of skin.

Treatment of Winchester syndrome is symptomatic and supportive. It may include medications such as anti-inflammatories, skeletal muscle relaxants, and antibiotics. If ear infections are frequent and severe, the surgical insertion of tubes (myringotomy) may be considered.

Physical therapy may be prescribed to help promote use of the affected limbs. The use of mobility devices may be required. Orthopedic procedures to decrease contractures may be of benefit. Genetic counseling may be of benefit for patients and their families.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Winchester Syndrome Resources



Paquette M, Langlais RP. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:271.

Beighton P. Ed. McKusick's Heritable Disorders of Connective Tissue. 5th ed. Mosby-Year Book, Inc. St. Louis, MO; 1993:722.

Zankl A, Bonafe L, Calcaterra V, et al. Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. Clin Genet. 2005;67:261-66.

Sidwell RU, Brueton LA, Grabczynska SA, et al. Progressive multilayered banded skin in Winchester syndrome. J Am Acad Dermatol. 2005;
50(2 Suppl):S53-56.

Singh JA, Williams CB, McAlister WH. Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: a new syndrome? Am J Med Genet A. 2003;121:118-25.

Somerville RPT, Oblander SA, Apte SS. Matrix metalloproteinases: old dogs with new tricks. Genome Biol. 2003;4:216.

Matthiesen G, Pedersen VF, Helin P, et al. Winchester syndrome. Int Orthop. 2001;25:331-33.

Al Aqeel A, Al Sewairi W, Edress B, et al. Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. Am J Med Genet. 2000;93:11-18.

Al-Mayouf, Majeed M, Hugosson C, et al. New form of idiopathic osteolysis: Nodulosis, arthropathy and osteolysis (NAO). Am J Med Genet. 2000;93:5-10.

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Winchester Disease. Entry Number; 277950: Last Edit Date; 3/17/2004.

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Nodulosis-Arthropathy-Osteolysis Syndrome. Entry Number; 605156: Last Edit Date; 6/28/2001.

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Osteolysis, Hereditary Multicentric (Torg Osteolysis Syndrome). Entry Number; 259600: Last Edit Date; 3/17/1999.

Urban JE. Winchester Syndrome. emedicine. Last Updated: April 15, 2003. 15pp.

Ayme S. Winchester disease. orphanet. Update: 27/03/2005. 1p.

Winchester Syndrome. Climb. nd. 1p.

Report last updated: 2008/04/25 00:00:00 GMT+0