Marden Walker Syndrome
Marden Walker Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Marden Walker Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
- Arthrogryposis Multiplex Congenita
- Cerebro-Oculo-Facio-Skeletal Syndrome
- Schwartz-Jampel Syndrome
Marden-Walker syndrome is a rare connective tissue disorder that is inherited as an autosomal recessive trait. Patients with this disorder typically have a distinct facial expression, a cleft or high-arched palate, small or receding jaw (micrognathia), bone joints in a fixed position, growth delay and limited control of muscle movement. Marden-Walker syndrome affects males more often than females.
Patients with Marden-Walker syndrome have distinct facial features including an abnormality of the jaw, droopy eyelids, a flat bridge of the nose, low-set ears, and a fixed facial position.
Other characteristics of this disorder are curvature of the spine causing a hunchback, bent joints that will not move (joint contractures), a cleft or high-arched palate, growth delay, and slow muscle movement.
Other symptoms of Marden-Walker syndrome may include a small head circumference, heart abnormalities, an irregular sexual and urinary system, a decrease in bone mass, a breastbone that pushes out or sinks in, a small projecting piece of tissue on the front of the outer ear (preauricular tag), abnormally small eyes, a short neck, a small mouth and/or a low hairline.
A condition in which extra tissue causes obstruction of the small intestine (duodenal bands); narrowing of the ring that separates the stomach from the first part of the small intestine causing a blockage in the flow of partly digested food (pyloric stenosis); and/or loss of appetite, failure of the body to absorb nutrients adequately, stomach pain and weight loss caused by a condition in which there are not enough pancreatic hormones or enzymes (pancreatic insufficiency) have all been associated with Marden-Walker syndrome.
Marden-Walker syndrome is inherited as an autosomal recessive trait. The exact genetic malfunction is not yet established but some clinicians believe a single gene defect may be responsible.
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.
Marden-Walker Syndrome is a very rare disorder that affects males more often than females with a ratio of 11 to 3. There have been approximately twenty cases reported in the medical literature.
Symptoms of the following disorders can be similar to those of Marden-Walker syndrome. Comparisons may be useful for a differential diagnosis:
Van den Ende-Gupta syndrome (VDEGS) is a "Marden-Walker-like" disorder in which many of the skeletal symptoms of Marden-Walker syndrome are present. (For more information on this disorder, see the Online Mendelian Inheritance in Man or OMIM database, entry 600920.)
Arthrogryposis multiplex congenita is a rare congenital disease characterized by reduced mobility of multiple joints at birth due to proliferation of fibrous tissue. Typically the range of motion of the joints of all limbs is limited. (For more information on this disorder choose "Arthrogryposis Multiplex Congenita" as your search term in the Rare Disease Database.)
Cerebro-oculo-facio-skeletal syndrome is a genetic degenerative disorder of the brain and spinal chord that is present at birth. The disorder is characterized by an extremely small head, abnormally small eyes, clouding of the eye's lens (cataract), a horizontally narrow opening between the eyelids, abnormally large ears, a small jaw, fixed bending of the elbows and knees, and/or a hunched back. Cerebro-oculo-facio-skeletal syndrome is inherited as an autosomal recessive trait. (For more information on this disorder, choose "Cerebro-Oculo-Facio-Skeletal Syndrome" as your search term in the Rare Disease Database.)
Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait. People with this disorder have muscles that do not relax after contracting (myotonia). The main characteristics of Schwartz-Jampel syndrome are abnormal bone formation and abnormalities of the face and eyes. Other abnormalities that may be found in some patients with this disorder are short stature, low birth weight, a short neck, a pigeon breast, curvature of the spine causing a hunchback and/or a condition in which the joints are bent and will not move (joint contractures).
Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
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 web site.
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For information about clinical trials sponsored by private sources, contact:
Orrico A. Marden-Walker Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:18.
Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. W. B. Saunders Co., Philadelphia, PA; 1997:220-21.
Gorlin RJ, Cohen MMJr, Levin LS, eds. Syndromes of the Head and Neck. 3rd ed. Oxford University Press, London, UK; 1990:633-34.
Orrico A, Galli L, Zappella M, et al. Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance and refinement of phenotype in a surviving patient. J Child Neurol. 2001;16:150-53.
Garavelli L, Donadio A, Banchini G, et al. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. Genet Couns. 2000;11:111-18.
Fryns JP, Willekens D, Van Schoubroeck D, et al. Marden-Walker syndrome versus isolated distal arthrogryposis: evidence the both conditions may be variable manifestations of the same mutated gene. Clin Genet. 1998;54:86-89.
Gripp KW, Scott CI Jr, Brockett BC, et al. Extending the spectrum of distal arthrogryposis. Am J Med Aenet. 1996;65:286-90.
Soekarman D, Volcke P, legius E, et al. Marden-Walker phenotype: a diagnostic dilemma. Genet Couns. 1996;7:31-39.
Kotzot D, Schinzel A. Marden-Walker syndrome in an adult. Clin Dysmorphol. 1995;4:260-65.
FROM THE INTERNET
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Entry Number; 248700: Last Edit Date; 5/26/1999.
Marden-Walker syndrome (MWS). Jablonski's Syndromes database. nd. 2pp.
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