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$Unique_ID{BRK03420}
$Pretitle{}
$Title{Acrocallosal Syndrome, Schinzel Type}
$Subject{Acrocallosal Syndrome Schinzel Type Acrocallosal Syndrome ACS Hallux
Duplication Postaxial Polydactyly Absence of Corpus Callosum Schinzel
Acrocallosal Syndrome Greig Cephalopolysyndactyly Syndrome
Oral-Facial-Digital Syndrome}
$Volume{}
$Log{}
Copyright (C) 1993 National Organization for Rare Disorders, Inc.
936:
Acrocallosal Syndrome, Schinzel Type
** IMPORTANT **
It is possible that the main title of the article (Schinzel Type
Acrocallosal 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
Acrocallosal Syndrome
ACS
Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum
Schinzel Acrocallosal Syndrome
Information on the following diseases can be found in the Related
Disorders section of this report:
Greig Cephalopolysyndactyly Syndrome
Oral-Facial-Digital 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.
Schinzel Acrocallosal Syndrome is a very rare disorder inherited as an
autosomal recessive genetic trait. This disorder is characterized by
craniofacial abnormalities, absence or underdevelopment of the mass of white
matter that unites the two halves of the brain (corpus callosum), additional
fingers and/or toes (polydactyly), loss of muscle tone (hypotonia), and
mental retardation.
Symptoms
Schinzel Acrocallosal Syndrome is a very rare disorder characterized by
absent or underdeveloped fibers that unite the two halves of the brain
(corpus callosum), additional fingers and/or toes (polydactyly), mental
retardation, loss of muscle tone (hypotonia), and craniofacial abnormalities.
Patients with this disorder have characteristic facial features including
an unusually large head (macrocephaly) and bulging of the forehead. A short,
broad nose as well as eyes that are down-slanted, crossed (strabismus) and
widely spaced are typical facial features.
Abnormalities of the fingers and toes may include: an additional or
partial duplication of the large toe; additional fingers and/or toes; thumbs
that are split at the ends (bifid terminal); as well as fusion of fingers
and/or toes (syndactyly).
A condition in which there is a reduction of oxygen to tissue (hypoxia)
is often found in the first few weeks after birth. This condition may cause
a bluish discoloration of the skin, an increased heart rate, elevated blood
pressure and an increased breathing rate (respiration). Difficulties with
feeding as well as frequent respiratory infections are common.
Other abnormalities that have been found in some patients with Schinzel
Acrocallosal Syndrome are: seizures; an abnormal accumulation of fluid on
the brain (hydrocephaly); cleft lip and/or cleft palate; underdevelopment of
the part of the brain that coordinates voluntary muscle movement (cerebellar
hypoplasia); failure of one or both of the testicles to descend into the
scrotum (cryptorchidism); bone abnormalities and/or abnormal development of
the kidneys. (For more information on these disorders choose "Epilepsy",
"Cleft Lip and Cleft Palate" and "Hydrocephalus" as your search terms in the
Rare Disease Database).
Causes
Schinzel Acrocallosal Syndrome is a very rare disorder thought to be
inherited as an 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 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
Schinzel Acrocallosal Syndrome is a very rare disorder that affects males and
females in equal numbers. There have been approximately fifteen cases of
this disorder reported in the medical literature.
Related Disorders
Symptoms of the following disorders can be similar to those of Schinzel
Acrocallosal Syndrome. Comparisons may be useful for a differential
diagnosis:
Greig Cephalopolysyndactyly Syndrome is a rare disorder thought to be
inherited as an autosomal dominant genetic trait. This disorder is
characterized by an abnormally large head (macrocephaly) and an unusual
facial appearance with a high prominent forehead, broad nose and widely
spaced eyes (hypertelorism). Additional fingers and toes (polysyndactyly),
enlarged thumbs and great toes as well as fusing or webbing of the fingers
and toes (syndactyly) may also occur. (For more information on this
disorder, choose "Greig Cephalopolysyndactyly " as your search term in the
Rare Disease Database).
Oral-Facial-Digital Syndrome is a rare disorder thought to be inherited
as an autosomal recessive genetic trait. Four types of this disorder have
been identified. The Mohr Type or Oral-Facial-Digital Syndrome II has
symptoms very similar to Schinzel Acrocallosal Syndrome although the corpus
callosum is not affected. Symptoms of this disorder include neuromuscular
disturbances, facial abnormalities, and abnormalities of the fingers and
toes. (For more information on this disorder, choose "Oral-Facial-Digital
Syndrome" as your search term in the Rare Disease Database).
Therapies: Standard
Surgery may be performed to separate and/or remove additional fingers and/or
toes in patients with Schinzel Acrocallosal Syndrome.
When hydrocephalus is present a shunt, or tube may be inserted into the
head cavity to drain the excess cerebrospinal fluid into a part of the body
that can absorb it. In growing children the shunt may have to be lengthened
periodically.
When cleft lip and/or palate are present, surgery can be performed to
repair the lip and an artificial device called a prosthesis may be used to
close or block the opening in the palate. Surgical repair can be carried out
in stages or in a single operation, according to the nature and severity of
the defect.
When seizures are present anti-convulsant drugs such as phenytoin,
valproic acid, phenobarbarbitol, clonazepam, ethusuximide, primidone,
corticotropin, and corticosteroid drugs may be used to help prevent and
control the seizures.
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
January 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 Schinzel Acrocallosal Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Institute of Child Health and Human Development (NICHHD)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5133
Association for Retarded Citizens of the U.S.
P.O. Box 6109
Arlington, TX 76005
(817) 640-0204
(800) 433-0525
American Cleft Palate Cranial Facial Association
1218 Granview Ave.
Pittsburgh, PA 15211
(412) 681-1376
(800) 24CLEFT
National Cleft Palate Association
2950 Hearne Ave
Shreveport, LA 71103
(318) 635-8191
Hydrocephalus Parent Support Group
225 Dickinson St., H-893
San Diego, CA 92103
National Hydrocephalus Foundation
400 N. Michigan Ave., Suite 1102
Chicago, IL 60611-4102
Hydrocephalus Association
870 Market St., Suite 955
San Francisco, CA 94102
(415) 776-4713
The Epilepsy Foundation of America
4351 Garden City Drive
Landover, MD 20785
(800) 332-1000
(301) 459-3700
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. 1179-80.
BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990. Pp. 34.
THE ACROCALLOSAL SYNDROME: M.M. Nelson, et al.; Am J Med Genet (June,
1982, issue 12(2)). Pp. 195-9.
ACROCALLOSAL SYNDROME: H.J. Hendriks, et al., Am J Med Genet (March,
1990, issue 35(3)). Pp. 443-6.
ACROCALLOSAL SYNDROME: ADDITIONAL MANIFESTATIONS: A.C. Casamassima, et
al.; Am J Med Genet (March, 1989, issue 32(3)). Pp. 311-7.
ACROCALLOSAL SYNDROME: NEW FINDINGS: J.B. Moeschler, et al.; Am J Med
Genet (March, 1989, issue 32(3)). Pp. 306-10.