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$Unique_ID{BRK03511}
$Pretitle{}
$Title{Baller-Gerold Syndrome}
$Subject{Baller-Gerold Syndrome Craniosynostosis-Radial Aplasia Syndrome
Craniosynostosis with Radial Defects Apert Syndrome Carpenter Syndrome
Craniosynostosis Crouzon Disease}
$Volume{}
$Log{}
Copyright (C) 1992 National Organization for Rare Disorders, Inc.
909:
Baller-Gerold Syndrome
** IMPORTANT **
It is possible that the main title of the article (Baller-Gerold
Syndrome) is not the name you expected. Please check the SYNONYMS listing to
find the alternate name and disorder subdivisions covered by this article.
Synonyms
Craniosynostosis-Radial Aplasia Syndrome
Craniosynostosis with Radial Defects
Information on the following diseases can be found in the Related
Disorders section of this report:
Apert Syndrome
Carpenter Syndrome
Craniosynostosis
Crouzon Disease
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.
Baller-Gerold Syndrome is a very rare disorder that is thought to be
inherited as an autosomal recessive trait. Major features of this disorder
are premature fusion or closure of the fibrous or "soft" parts of the skull
causing an upward growth of the head (craniosynostosis), a deformity of the
large bone of the forearm (ulnar) causing the bone to be short and curved,
and a missing or underdeveloped short bone of the forearm (radius).
Symptoms
Patients with Baller-Gerold Syndrome are born with premature closure of the
joints or seams (sutures) of the skull causing an upward growth of the head
giving it a pointed or cone-shaped appearance. The large bone of the forearm
on the opposite side of the thumb (ulnar) is short and curved and the short
bone of the forearm on the thumb side (radius) is underdeveloped or missing.
Most patients with Baller-Gerold Syndrome are very short and have a nasal
bridge that is high. They also have a prominent lower jaw.
Hearing loss, absent or underdeveloped thumbs and bones of the hand,
abnormalities of the pelvis and spine, a vertical fold of skin over the inner
corner of the eye (epicanthal folds), eyes that are set close together, small
abnormally developed ears, skin that sheds and/or mental or motor delay may
also be present.
Problems with fine motor skills may be present due to the deformities of
the hands and arms.
Causes
Baller-Gerold Syndrome is thought to be inherited as an autosomal recessive
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 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
Baller-Gerold Syndrome is a very rare disorder that affects males and females
in equal numbers. There have been approximately twelve cases reported in the
medical literature.
Related Disorders
Symptoms of the following disorders can be similar to those of Baller-Gerold
Syndrome. Comparisons may be useful for a differential diagnosis:
Apert Syndrome, also known as Acrocephalosyndactyly Type III, is a rare
disorder characterized by premature closing of the joints or seams (sutures)
of the skull causing the head to be pointed (craniosynostosis), a flattened
nasal bridge, eyes that are set wide apart, a high palate, fingers and toes
that are fused or webbed, vertebral and wrist deformities and/or mental
retardation. This disorder is inherited as an autosomal dominant trait.
(For more information on this disorder, choose "Apert Syndrome" as your
search term in the Rare Disease Database).
Carpenter Syndrome, also known as Acrocephalopolysyndactyly, is a rare
disorder characterized by premature closing of the joints or seams (sutures)
of the skull causing the head to be pointed (craniosynostosis), abnormally
short fingers that are webbed, more than five toes on each foot, skin
abnormalities and possible mental retardation. (For more information on this
disorder, choose "Carpenter Syndrome" as your search term in the Rare Disease
Database.)
Craniosynostosis is a rare disorder that can be inherited as an autosomal
recessive or autosomal dominant trait. This disorder is characterized by
premature fusion or closure of the skull causing the head to be pointed and
the brain and face not to be able to grow properly. Craniosynostosis can be
associated with a variety of genetic syndromes or it may occur alone.
Crouzon Disease is a rare disorder inherited as an autosomal dominant
trait. This disorder is characterized by premature fusion or closure of the
skull (craniosynostosis), an unusually wide distance between the eyes, a
condition in which the eyes do not look in the same direction, and protrusion
of the eyeballs. Swelling of the optic disk inside the eye and optic atrophy
may develop. Impaired vision and/or hearing loss may be present in some
cases. Dental malformations, an underdeveloped upper jaw, a beak shaped
nose, and/or a high palate may also be present. (For more information on
this disorder, choose "Crouzon Disease" as your search term in the Rare
Disease Database).
Therapies: Standard
Treatment of Baller-Gerold Syndrome involves surgery to relieve pressure
inside the skull due to the craniosynostosis. This can be done by separating
the bony sections and lining the seams between them with materials to prevent
fusion. The younger the patient is at the time of the surgery the better the
results.
Surgery to correct other skeletal deformities may be required and
physical as well as occupational therapy may also help in the development of
fine motor skills.
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
May 1992. 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 Baller-Gerold Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Craniofacial Foundation
3100 Carlisle Street, Suite 215
Dallas, TX 75204
(800) 535-3643
Forward Face
560 First Ave.
New York, NY 10016
(212) 263-5205
(800) 422-FACE
FACES
National Association for the Craniofacially Handicapped
P.O. Box 11082
Chattanooga, TN 37401
(615) 266-1632
About Face
99 Crowns Lane
Toronto, Ontario M5R 3PA
Canada
(416) 944-3223
Let's Face It
Box 711
Concord, MA 01742
(508) 371-3186
NIH/National Institute of Child Health and Human Development (NICHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
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, 9th Ed.: Victor A. McKusick, Editor: Johns
Hopkins University Press, 1990. Pp. 1114.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 380-1.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 2791.
BALLER-GEROLD SYNDROME: AN 11TH CASE OF CRANIOSYNOSTOSIS AND RADIAL
APLASIA: J.M. Boudreaux, et al.; Am J Med (December, 1990, issue 37(4)).
Pp. 447-50.