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$Unique_ID{BRK04007}
$Pretitle{}
$Title{Moebius Syndrome}
$Subject{Moebius Syndrome Mobius Syndrome Congenital Facial Diplegia Syndrome
Congenital Oculofacial Paralysis Facioscapulohumoral Muscular Dystrophy }
$Volume{}
$Log{}
Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.
451:
Moebius Syndrome
** IMPORTANT **
It is possible the main title of the article (Moebius Syndrome) is not
the name you expected. Please check the SYNONYMS listing on the next page to
find alternate names, disorder subdivisions, and related disorders covered by
this article.
Synonyms
Mobius Syndrome
Congenital Facial Diplegia Syndrome
Congenital Oculofacial Paralysis
Information on the following disease can be found in the Related
Disorders section of this report:
Facioscapulohumoral Muscular Dystrophy
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Moebius Syndrome is a hereditary disorder predominately characterized by
paralysis of the face. Facial nerve development is absent or diminished
causing abnormalities of the facial muscles and jaw. Other central nervous
system dysfunctions may cause abnormalities in the hands, hips, and feet.
This disorder is thought to be genetic and is present at birth. Mental
retardation occurs in approximately ten percent of cases.
Symptoms
Moebius Syndrome is identifiable at birth by a masklike expression most
apparent during crying or laughing. The mouth and eyes may remain open
during sleep due to facial nerve or muscle abnormalities. Eyes may become
ulcerated because they are not lubricated with sufficient tears in the
absence of blinking. Facial weakness or paralysis may cause difficulty in
feeding during infancy and later can contribute to speech problems. Muscle
paralysis can also cause oral fluid secretions to be breathed into the lungs
possibly leading to bronchopneumonia. Abnormal skin folds on each side of
the nose next to the eyes (epicanthus), abnormally small eyes, and defective
development of the jaw and tongue may also occur.
Children with this disorder may have more than five or fewer than five
fingers on a hand. Fingers may also be webbed, stiffened, and/or shortened.
Toes may also be stiffened in some cases, clubfeet may be present, and the
hips may be dislocated at birth. This disorder may also occur in conjunction
with Poland Syndrome. (For more information on this disorder, choose
"Poland" as your search term in the Rare Disease Database.)
Causes
Moebius Syndrome is thought to be inherited as an autosomal dominant trait.
(Human traits including the classic genetic diseases, are the product of the
interaction of two genes for that condition, one received from the father and
one from the mother. In dominant disorders, a single copy of the disease
gene (received from either the mother or father) will be expressed
"dominating" the normal gene and resulting in appearance of the disease. The
risk of transmitting the disorder from affected parent to offspring is 50%
for each pregnancy regardless of the sex of the resulting child.) Symptoms
may be caused by incomplete development of facial nerves, other cranial
nerves, and other parts of the central nervous system.
Affected Population
Moebius Syndrome is present at birth and affects males and females in equal
numbers. It is a very rare birth defect.
Related Disorders
Symptoms of the following disorder can be similar to those of Moebius
Syndrome. Comparison may be useful for a differential diagnosis:
Facioscapulohumoral Muscular Dystrophy, also known as Landouzy-Dejerine
Muscular Dystrophy, involves muscle weakness and wasting of the face,
shoulders, and arms. This disorder is genetic and usually begins between
nine and twenty years of age although it can begin during early childhood.
The face is masklike, flattened and expressionless. Patients are often
unable to raise their arms above the head. Shoulder blades are prominent.
In later stages, weakness extends to the pelvis and legs.
Therapies: Standard
Treatment of Moebius Syndrome involves muscle transfer surgery or cosmetic
surgery. Abnormal eye muscle alignment due to paralyzed muscles and other
muscle abnormalities affecting the face, jaw, hands and/or feet may be
corrected. Local eye medication may be helpful if eyes become too dry or
ulcerated. A special diet may help prevent aspiration of fluid into the
lungs and tube feeding may be necessary during infancy to maintain good
nutrition. Speech therapy in conjunction with corrective vocal cord surgery
may improve articulation. Genetic counseling will be of benefit for patients
and their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through March
1990. Since NORD's resources are limited, it is not possible to keep every
entry in the Rare Disease Database completely current and accurate. Please
check with the agencies listed in the Resources section for the most current
information about this disorder.
Resources
For more information on Moebius Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Moebius Syndrome Support Group
6449 Gerald Ave.
Van Nuys, CA 91406
(818) 908-9288
Moebius Syndrome Support Group
21 Shields Rd.
Whitley Bay, Tyne and Wear, NE25, 8UT, England
NIH/National Institute of Neurological Disorders & Stroke (NINDS)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5751
(800) 352-9424
Association for Congenital Facial Paralysis
928 Hanover Lane
Dyer, IN 46311
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
Society for the Rehabilitation of the Facially Disfigured, Inc.
550 First Avenue
New York, NY 10016
(212) 340-5400
About Face
99 Crowns Lane
Toronto, Ontario M6R 3PA
Canada
(416) 944-3223
For information on genetics and genetic counseling referrals, please
contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
EXTRAOCULAR MUSCLE APLASIA IN MOEBIUS SYNDROME: E.I. Traboulsi, et al.; J
Pediatr Ophthalmol Strabismus (May-June 1986, issue 23(3)). Pp. 120-122.
ABNORMAL B.A.E.P. IN A FAMILY WITH MOEBIUS SYNDROME: EVIDENCE FOR
SUPRANUCLEAR LESION: M. Stabile, et al.; Clin Genet (May 1984, issue 25(5)).
Pp. 459-463.
MOEBIUS SYNDROME. CASE REPORT WAS A 30-YEAR FOLLOW-UP: D.C. Morello, et
al.; Plast Reconstr Surg (September 1977, issue 60(3)). Pp. 451-453.