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$Unique_ID{BRK03976}
$Pretitle{}
$Title{Maxillonasal Dysplasia, Binder Type}
$Subject{Maxillonasal Dysplasia Binder Type Binder Syndrome Maxillonasal
Dysplasia Nasomaxillary Hypoplasia Chondrodysplasia Punctata Rhizomelic Type
Conradi-Hunermann Syndrome Fetal Warfarin Syndrome }
$Volume{}
$Log{}
Copyright (C) 1993 National Organization for Rare Disorders, Inc.
951:
Maxillonasal Dysplasia, Binder Type
** IMPORTANT **
It is possible that the main title of the article (Maxillonasal
Dysplasia, Binder Type) is not the name you expected. Please check the
SYNONYMS listing to find the alternate name and disorder subdivisions covered
by this article.
Synonyms
Binder Syndrome
Maxillonasal Dysplasia
Nasomaxillary Hypoplasia
Information on the following diseases can be found in the Related
Disorders section of this report:
Chondrodysplasia, Punctata, Rhizomelic Type
Conradi-Hunermann Syndrome
Fetal Warfarin 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.
Binder Type Maxillonasal Dysplasia is a rare disorder that may occur for
no apparent reason (sporadically) or may be inherited as an autosomal
dominant or autosomal recessive genetic trait. Individuals affected with
this disorder have distinct facial features that typically include a small,
flat, low-set nose and a protruding chin. Crossed eyes, cleft lip and
palate, as well as abnormalities of the cervical spine have also been found
in some affected patients.
Symptoms
Binder Type Maxillonasal Dysplasia is characterized by distinct facial
features that include a small, flat, low-set nose with a short underdeveloped
partition separating the two nasal cavities (nasal septum). The nasal
openings (apertures) may have a "half-moon" appearance and the nasal spine
may be absent or underdeveloped. The upper lip may be elevated and rounded
and the chin may protrude outward.
Other features that have been found in some affected individuals have
been crossed eyes (convergent strabismus), a cleft of the lip, upper jaw and
palate (labiomaxillopalatine cleft), abnormalities of the cervical spine,
protrusion of the lower jaw, and abnormal contact of the teeth of the upper
and lower jaws (malocclusions).
Some researchers feel that Binder Type Maxillonasal Dysplasia may be a
mild form of Chondrodysplasia Punctata that is not properly diagnosed because
affected individuals typically seek help at an older age, and the x-ray
features of Chondrodysplasia Punctata have disappeared by then. (See related
disorders section for information about Chondrodysplasia Punctata.)
Causes
Binder Type Maxillonasal Dysplasia may appear for no apparent reason
(sporadically) or be inherited as an autosomal dominant or autosomal
recessive genetic trait. 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 the 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.
In recessive disorders, the condition does not appear unless a person
inherits the same defective gene for the same trait from each parent. If one
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 of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent. Fifty percent of
their children will be carriers, but healthy as described above. Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.
Affected Population
Binder Type Maxillonasal Dysplasia is a rare disorder that affects males and
females in equal numbers. It is detectable at birth but may not be diagnosed
until years later. There have been over one hundred cases of this disorder
reported in the medical literature.
Related Disorders
Symptoms of the following disorders can be similar to those of Binder Type
Maxillonasal Dysplasia. Comparisons may be useful for a differential
diagnosis:
Chondrodysplasia Punctata, Rhizomelic Type, is a rare disorder inherited
as an autosomal recessive genetic trait. A flattened face, vision problems,
and an accumulation of calcium (calcification) in the hip and shoulder joints
may also be present. Spasticity and mental retardation have also occurred in
affected patients.
Conradi-Hunermann Syndrome is a mild form of Chondrodysplasia Punctata
that is inherited as an autosomal dominant genetic trait. Individuals
affected with this disorder have distinct facial features with a flattened
tip and bridge of the nose. Mild to moderate growth deficiencies typically
occur as a result of calcium buildup (calcification) at the ends of the bones
(epiphyses). (For more information on this disorder, choose "Conradi-
Hunermann Syndrome" as your search term in the Rare Disease Database.)
Fetal Warfarin Syndrome is a disorder of altered fetal development. This
disorder results from a woman taking the drug warfarin (an anticoagulant)
during pregnancy. Affected infants may have facial features similar to
Binder Type Maxillonasal Dysplasia. The most consistent feature of this
disorder is depression of the bridge of the nose resulting in an upturned,
flattened appearance and a deep groove between the nostrils. Growth
deficits, recurrent infections and mental retardation may also occur.
Therapies: Standard
Treatment of Binder Type Maxillonasal Dysplasia may consist of surgery to
correct the abnormalities of the nose and jaw when the child is older. A
team of orthodontists, oral and plastic surgeons may be used.
Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.
Therapies: Investigational
Research on birth defects and their causes is ongoing. The National
Institutes of Health (NIH) is sponsoring the Human Genome Project which is
aimed at mapping every gene in the human body and learning why they sometimes
malfunction. It is hoped that this new knowledge will lead to prevention and
treatment of genetic disorders in the future.
This disease entry is based upon medical information available through
June 1993. 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 Binder Type Maxillonasal Dysplasia, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
Craniofacial Family Association
170 Elizabeth St., Suite 650
Toronto, Ontario
M5G, 1X8 Canada
National Craniofacial Foundation
3100 Carlisle St., Suite 215
Dallas, TX 75204
(800) 535-3643
National Foundation for Facial Reconstruction
550 First Ave.
New York, NY 11016
(212) 340-6656
(212) 340-5400
The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
For Genetic Information and Genetic Counseling Referrals:
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
MENDELIAN INHERITANCE IN MAN, 10th Ed., Victor A. McKusick, Editor; Johns
Hopkins University Press, 1990. Pp. 700-701.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 1110-1111.
MAXILLONASAL DYSPLASIA (BINDER'S SYNDROME): A CRITICAL REVIEW AND CASE
STUDY: B.B. Horswell, et al., J Oral Maxillofac Surg (February, 1987, issue
45(2)). Pp. 114-22.
MAXILLONASAL DYSPLASIA (BINDER'S SYNDROME): I.R. Munro, et al., Plast
Reconstr Surg (May, 1979, issue 63(5)). Pp. 657-63.
SURGICAL CORRECTION OF THE NOSE AND MIDFACE IN MAXILLONASAL DYSPLASIA
(BINDER'S SYNDROME: H Holmstrom, Plast Reconstr Surg (November, 1986, issue
78(5)). Pp. 568-80.
THE CRANIOFACIAL MORPHOLOGY IN PERSONS WITH MAXILLONASAL DYSPLASIA
(BINDER SYNDROME). A LONGITUDINAL CEPHALOMETRIC STUDY OF ORTHODONTICALLY
TREATED CHILDREN: M. Olow-Nordenram, et al., Am J Orthod Dentofacial Orthop
(February, 1989, issue 95(2)). Pp. 148-58.
CLINICAL AND RADIOLOGIC ASPECTS OF MAXILLONASAL DYSOSTOSIS (BINDER
SYNDROME): J. Delaire, et al., Head Neck Surg (Nov-Dec, 1980, issue 3(2)).
Pp. 105-22.
FAMILIAL VARIANT OF MAXILLONASAL DYSPLASIA: E. Gross-Kieselstein, et
al., J Craniofac Genet Dev Biol (1986, issue 6(3)). Pp. 331-4.