Marcus Gunn Phenomenon

Marcus Gunn Phenomenon

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Marcus Gunn Phenomenon 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.

Synonyms

  • Marcus Gunn (Jaw-Winking) Syndrome
  • Marcus Gunn Ptosis (with jaw-winking)
  • Maxillopalpebral Synkinesis

Disorder Subdivisions

  • None

General Discussion

Marcus Gunn phenomenon is a rare genetic disorder that is usually present at birth. It is characterized by the movement of one upper eyelid in a rapid rising motion each time the jaw moves. Other eye abnormalities and vision difficulties may also occur. The exact cause of this phenomenon is not known.

Symptoms

In most patients with Marcus Gunn phenomenon, the upper eyelid of one eye (unilateral) droops (blepharoptosis). The major symptom of this disorder is the rapid and involuntary upward movement of the affected eyelid after almost any movement of the lower jaw. As a result, that eye appears to open even wider. This first becomes apparent soon after birth, especially during feeding and sucking. These activities cause the eyelid to move up and down. A few cases have been seen in adults.



Individuals with Marcus Gunn phenomenon may experience visual impairment, such as crossing of the eyes (strabismus), slight impairment of vision in one eye as compared to the other (a difference in the refractive powers of the eyes [anisometropia], and other problems (e.g., superior rectus muscle palsy or double elevator palsy).



In some cases, symptoms may be produced by movement of the lips, whistling, smiling, clenching the teeth, chewing, puffing out the cheeks, or swallowing.

Causes

The exact cause of Marcus Gunn phenomenon is not known. For reasons that are unclear, there is a bad connection between the nerves that stimulate, and the muscles that move, the eyelids and the jaw. Some clinical researchers believe that about half of the cases of Marcus Gunn phenomenon are genetically determined. The site and nature of the gene(s) at fault in this disorder are not known, but familial studies indicate that it is transmitted as an autosomal dominant 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 which are on the chromosomes received from the father and the mother.



Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Marcus Gunn phenomenon is a rare genetic disorder present at birth. It affects males and females in equal numbers. Approximately 300 cases have been reported in the medical literature.

Standard Therapies

Diagnosis

The diagnosis is obvious and is often made by one or both of the parents who become aware of the major symptom during feeding.



Treatment

Treatment of Marcus Gunn phenomenon is usually not needed because the condition tends to grow less noticeable with age. Genetic counseling may be of benefit for patients and their families. Other related eye problems such as strabismus, amblyopia, etc., may be corrected with eyeglasses, surgery and/or drugs.



Surgical correction of the droopiness of the eyelid or of the jaw winking is recommended only if the patient (or parents) agree on which of the symptoms is the more cosmetically objectionable. Surgical procedures are available for several different intensities of the droop of the eyelids.

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 web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Gorlin RJ, Cohen MMJr, Levin LS. Eds. Syndromes of the Head and Neck. 3rd ed. Oxford University Press, London, UK; 1990:604-05.



Kanski JJ. Ed. Clinical Ophthalmology. 4th ed. Butterworth-Heinemann. Oxford, UK; 1999:35.



Newell FW. Ed. Ophthalmology: Principles and Concepts. 7th ed. Mosby Year Book, St. Louis, MO; 1991:168.



JOURNAL ARTICLES

Wong JF, Theriault JF, Bouzouaya C, et al. Marcus-Gun jaw-winking phenomenon: a new supplemental test in the preoperative evaluation. Ophthal Plastic Reconstr Surg. 2001;17:412-18.



Hwang JM, Park SH. A case of Marcus Gunn jaw winking and pseudo inferior oblique overaction. Am J Ophthalmol. 2001;131:148-50.



Kodsi S. Marcu Gunn jaw winking with trigemino-abducens synkinesis. J AAPOS. 2000;4:316-17.



Yoshikata R, Yanai A. A clinical sign of the Marcus Gunn phenomenon. Case Report. Scand J Plastic Reconstr Surg Hand Surg. 1999;33:237-41.



Bartkowski SB, Zapala J, Wyszynska-Pawelec G, et al. Marcus Gunn Jaw-Winking Phenomenon: management and results of treatment in 19 patients. J Craniomaxillofac Surg. 1999;27:25-29.



Landau WM. Clinical Neuromythology. I. The Marcus Gunn phenomenon: loose canon of neuroophthalmology. Neurology. 1988;38:1141-42.



FROM THE INTERNET

McKusick VA, Ed. Online Mendelian Inheritance In Man (OMIM). Marcus Gunn Phenomenon. The Johns Hopkins University. Entry Number;154600: Last Edit Date; 11/6/1994.



Blaydon SM. Marcus Gunn Jaw-winking Syndrome. emedicine. Last Updated: July 6, 2001. 11pp.

www.emedicine.com/iph/topic608.htm

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



NIH/National Eye Institute

31 Center Dr

MSC 2510

Bethesda, MD 20892-2510

United States

Tel: (301)496-5248

Fax: (301)402-1065

Email: 2020@nei.nih.gov

Internet: http://www.nei.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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