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$Unique_ID{BRK03539}
$Pretitle{}
$Title{Branchio-Oculo-Facial Syndrome}
$Subject{Branchio-Oculo-Facial Syndrome Branchiooculofacial Syndrome BOFS
Imperforate Nasolacrimal Duct, and Premature Aging Syndrome Hemangiomatous
Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-hemangiomatous
Branchial Cyst Syndrome Oral-Facial-Digital Syndrome Cleft Lip and Cleft
Palate Cerebro-Costo-Mandibular Syndrome Cerebro-Oculo-Facio-Skeletal
Syndrome}
$Volume{}
$Log{}
Copyright (C) 1990 National Organization for Rare Disorders, Inc.
714:
Branchio-Oculo-Facial Syndrome
** IMPORTANT **
It is possible that the main title of the article (Branchio-Oculo-Facial
Syndrome) is not the name you expected. Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.
Synonyms
Branchiooculofacial Syndrome
BOFS
Imperforate Nasolacrimal Duct, and Premature Aging Syndrome
Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
Lip Pseudocleft-hemangiomatous Branchial Cyst Syndrome
Information on the following diseases can be found in the Related
Disorders section of this report:
Oral-Facial-Digital Syndrome
Cleft Lip and Cleft Palate
Cerebro-Costo-Mandibular Syndrome
Cerebro-Oculo-Facio-Skeletal Syndrome
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.
Branchio-Oculo-Facial Syndrome is a very rare genetic disorder. Major
symptoms may include abnormal sinuses, growth retardation, premature aging
and an unusual facial appearance.
Symptoms
Branchio-Oculo-Facial Syndrome is characterized by low birth weight and
slowed growth after birth, there is clefting of the sinuses on both sides of
the face, crossed eyes, obstructed ducts in the nose, a broad nasal bridge,
protruding upper lip, and a fish-like mouth. There may also be premature
aging and very early graying of the hair. The ears of persons with Branchio-
Oculo-Facial Syndrome may be malformed and have skin lesions behind them.
Other symptoms may include pits in the skin of the ears and lips, a highly
arched palate, tooth abnormalities, and cysts under the skin of the scalp.
This disorder does not affect intelligence.
Causes
Branchio-Oculo-Facial Syndrome is transmitted through autosomal dominant
genes. In most cases at least one parent has a deformity of the lip or
mouth, and premature graying of the hair. Human traits, including the classic
genetic diseases, are the product of the interaction of two genes, 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 other normal gene and resulting in
appearance of the disease. The risk of transmitting the disorder from
affected parent to offspring is fifty percent for each pregnancy regardless
of the sex of the resulting child.
Affected Population
Branchio-Oculo-Facial Syndrome is a very rare disorder affecting males and
females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Branchio-
Oculo-Facial Syndrome. Comparisons may be useful for a differential
diagnosis:
Oral-Facial-Digital Syndrome (OFD) is a genetic disorder which includes
many neuromuscular disturbances, congenital malformations such as cleft
palate, facial deformities, malformations of the hands and feet, shortened
limbs and various degrees of mental retardation. (For more information on
this disorder, choose "OFD" as your search term in the Rare Disease
Database).
Cleft Lip and Cleft Palate are among the most common congenital
malformations. Clefts of the lip or palate result when the development of
the face or mouth in an embryo is incomplete. Children born with this
condition have an opening in their upper lip or the roof of the mouth. The
defect ranges from a slight notch-like deformity to complete clefts of the
lip and palate. Symptoms may include flattened nose and splayed lips, nasal
quality voice, speech defects, deformed maxillary arch and an excessive
number or absence of teeth. (For more information on this disorder, choose
"Cleft Lip" as your search term in the Rare Disease Database).
Cerebro-Costo-Mandibular Syndrome is a rare genetic disorder
characterized by an unusually small jaw (micrognathia), abnormalities of the
palate and multiple rib defects. Mild to moderate mental retardation may
also occur. (For more information on this disorder, choose "Cerebro-C" as
your search term in the Rare Disease Database).
Cerebro-Oculo-Facio-Skeletal Syndrome is a genetic degenerative disorder
of the brain and spinal cord that begins before birth. The disorder is
characterized by reduced amounts of white brain matter with gray mottling,
lowered muscle tone and diminished or absent reflexes. Abnormalities of the
skull, face, eyes, limbs and other parts of the body may also occur. (For
more information on this disorder, choose "Cerebro-Oculo-Facio-Skeletal" as
your search term in the Rare Disease Database).
Therapies: Standard
Treatment of Branchio-Oculo-Facial Syndrome is reconstructive surgery to
repair facial deformities and obstructed nasal ducts. Crossed eyes may also
be corrected by surgery. Genetic counseling is recommend for patients and
their families. Other treatment is symptomatic and supportive.
Therapies: Investigational
This disease entry is based upon medical information available through July
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 Branchio-Oculo-Facial Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
National Craniofacial Foundation
3100 Carlisle St., Suite 215
Dallas, TX 75204
(800) 535-3643
Let's Face It
Box 711
Concord, MA 01742
(508) 371-3186
National Foundation for Facial Reconstruction
550 First Avenue
New York, NY 11016
(212) 340-6656
National Cleft Palate Association
1218 Grandview Ave.
Pittsburgh, PA 15211
1-800-23CLEFT
1-800-24CLEFT
For genetic information and genetic counseling referrals, please contact:
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
References
MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins
University Press, 1986. Pp. 112.