Marcus Gunn Phenomenon
Marcus Gunn Phenomenon
National Organization for Rare Disorders, Inc.
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.
- Marcus Gunn (Jaw-Winking) Syndrome
- Marcus Gunn Ptosis (with jaw-winking)
- Maxillopalpebral Synkinesis
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
- Facial Nerve Injury
- Marin-Amat Syndrome (Inverse Marcus Gunn Phenomenon)
- Oral-Facial-Digital Syndrome
- Faciopalpebral Synkinesis
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.
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.
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.
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.
Marcus Gunn Phenomenon may occur in conjunction with certain other eye disorders such as Duane Syndrome, or possibly Retinitis Pigmentosa. (For more information on these disorders, choose "Duane," or "Retinitis Pigmentosa" as your search term in the Rare Disease Database.)
Certain types of injury to the facial nerve may produce symptoms similar to Marcus Gunn Phenomenon.
Marin-Amat Syndrome is similar to Marcus Gunn Phenomenon except that the eye closes, rather than opens wider, when the jaw moves to open the mouth. This disorder is also referred to as "Inverse Marcus Gunn Phenomenon".
Oral-Facial-Digital Syndrome is a rare genetic disorder. In patients with Type III of this syndrome, upon movement of the lower jaw, the eyelid involuntarily and rapidly raises, causing the eye to open wider (jaw-winking). More than the normal number of teeth are usually present. Other major symptoms may include disturbances involving the nervous and muscle (neuromuscular) systems, congenital (present at birth) malformations such as cleft palate, other facial deformities, malformation of the hands and feet, shortened limbs and various degrees of mental retardation. (For more information on this disorder, choose "Oral-Facial-Digital" as your search term in the Rare Disease Database.)
Faciopalpebral Synkinesis is a rare disorder characterized by the upper eyelid of one eye raising when the individual smiles.
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 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.
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:
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For information about clinical trials sponsored by private sources, contact:
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.
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.
March of Dimes Birth Defects Foundation
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