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$Title{Antley-Bixler Syndrome}
$Subject{Antley-Bixler Syndrome Multisynostotic Osteodysgenesis}
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Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.

204:
Antley-Bixler Syndrome

** IMPORTANT **
It is possible the main title of the article (Antley-Bixler Syndrome) is
not the name you expected.  Please check the SYNONYMS listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Multisynostotic Osteodysgenesis

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.


Antley-Bixler Syndrome is a very rare disease which is probably inherited
as an autosomal recessive disorder.  It is characterized by multiple skeletal
fusions, especially of the head, the hip bones, and part of the arm bones.

Symptoms

Only a few children suffering from Antley-Bixler Syndrome have been reported
in the medical literature.  These children all present certain specific
characteristics such as a premature closing of the sutures of the skull
(craniosynostosis) with an incompletely developed midface (hypoplasia).  This
results in a typical facial appearance and ear shape.  There is also a union
between the adjacent bones of the upper and lower arm (radiohumeral
synostosis).  Bowing of the hip bones (femora) and fractures of the hip bones
in newborns occurs in most patients with this disorder.

Causes

The cause of Antley-Bixler Syndrome is not known.  It is probably an
autosomal recessive inherited disease.  (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
recessive disorders, the condition does not appear unless a person inherits
the same defective gene 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 show no 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

Antley-Bixler Syndrome occurs in both boys and girls.

Related Disorders

The Camptomelic Syndrome is related to Antley-Bixler Syndrome.  It is
characterized by abnormal development of bone and cartilage
(osteochondrodysplasia), and is associated with a flat face, bowed tibia
(shin bone) with skin dimpling, underdeveloped shoulder blades (hypoplastic
scapulae) and short vertebrae.

Acrocephalosyndactyly syndromes are characterized by a pointed head and
other deformities caused by premature fusion of the cranial sutures and
webbed fingers.  Some of these characteristics are also be present in
children with Antley-Bixler Syndrome.

Therapies:  Standard

Treatment for Antley-Bixler Syndrome is symptomatic and supportive.  The
disorder can be diagnosed prenatally with ultrasound.

Therapies:  Investigational

This disease entry is based upon medical information available through
January 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 Antley-Bixler Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     Forward Face
     560 First Ave.
     New York, NY  10016
     (212) 263-5205
     (800) 422-FACE

     FACES
     National Association for Craniofacially Handicapped
     P.O. Box 11082
     Chattanooga, TN  37401
     (615) 266-1632

     Society for the Rehabilitation of the Facially Disfigured, Inc.
     550 First Ave.
     New York, NY  10016
     (212) 340-5400

     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

     About Face
     99 Crowns Lane
     Toronto, Ontario M6R 3PA
     Canada
     (416) 944-3223

     Let's Face It
     Box 711
     Concord, MA  01742
     (508) 371-3186

     NIH/National Institute of Dental Research
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-41

For more 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

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L.
Jones, M.D., W.B. Saunders, Co. 1988.  Pp. 378-9.

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  P. 814.