Última actualización:
May 28, 2008
Años publicados: 1992, 1995, 2004
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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.
Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.
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TEXTBOOKS
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.
JOURNAL ARTICLES
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.
www.nlm.nih.gov/chi/jablonski/syndrome_cgi?index=415
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Aprende más https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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