Acrocallosal Syndrome, Schinzel Type / Disease

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Acrocallosal Syndrome, Schinzel Type

Synonyms of Acrocallosal Syndrome, Schinzel Type

Absence of Corpus Callosum, Schinzel Type
ACLS
ACS
Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum
Schinzel Acrocallosal Syndrome

Disorder Subdivisions

General Discussion
Acrocallosal syndrome, Schinzel type is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings may be variable, including among affected members of the same family (kindred). However, the disorder is typically characterized by underdevelopment (hypoplasia) or absence (agenesis) of the thick band of nerve fibers joining the two hemispheres of the brain (corpus callosum) and moderate to severe mental retardation. In addition, many affected individuals have malformations of the skull and facial (craniofacial) region and/or distinctive abnormalities of the fingers and toes (digits). Characteristic craniofacial abnormalities may include an unusually large head (macrocephaly) with a prominent forehead; widely spaced eyes (ocular hypertelorism); downslanting eyelid folds (palpebral fissures); a small nose with a broad nasal bridge; and malformed (dysplastic) ears. Most affected individuals also have distinctive digital malformations, such as the presence of extra (supernumerary) fingers and toes (polydactyly) and webbing or fusion (syndactyly) of certain digits. Additional physical abnormalities may also be present, including growth retardation, resulting in short stature. Although autosomal recessive inheritance has been suggested, acrocallosal syndrome often appears to occur randomly for unknown reasons (sporadically).
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Organizations related to Acrocallosal Syndrome, Schinzel Type

Agenesis of the Corpus Callosum (ACC) Network
5749 Merrill Hall
Orono ME 04469-5749
Phone #: 207-581-3119
800 #: --
e-mail: um-acc@maine.edu
Home page: N/A
AmeriFace
PO Box 751112
Las Vegas NV 89136
Phone #: 702-769-9264
800 #: 888-486-1209
e-mail: info@ameriface.org
Home page: http://www.ameriface.org
American Heart Association
National Center
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: inquire@heart.org
Home page: http://www.americanheart.org
Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: chaser@compuserve.com
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
Epilepsy Foundation
4351 Garden City Drive
Landover MD 20785
Phone #: 301-459-3700
800 #: 800-332-1000
e-mail: postmaster@efa.org
Home page: http://www.epilepsyfoundation.org
FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga TN 37401
Phone #: 423-266-1632
800 #: 800-332-2373
e-mail: faces@faces-cranio.org
Home page: http://www.faces-cranio.org
Forward Face, Inc.
317 East 34th Street
New York NY 10016
Phone #: 212-684-5860
800 #: 800-393-3223
e-mail: info@forwardface.org
Home page: http://www.forwardface.org
Guardians of Hydrocephalus Research Foundation
2618 Avenue Z
Brooklyn NY 11235
Phone #: 718-743-4473
800 #: 800-458-8655
e-mail: GHRF2618@aol.com
Home page: N/A
Hydrocephalus Association
870 Market Street
San Francisco CA 94102
Phone #: 415-732-7040
800 #: 888-598-3789
e-mail: pip@hydroassoc.org
Home page: http://www.hydroassoc.org
Let's Face It (USA)
P.O. Box 29972
Bellingham WA 98228-1972
Phone #: 360-676-7325
800 #: --
e-mail: faceit@umich.edu
Home page: http://www.dent.umich.edu/faceit
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
NIH/National Eye Institute
Building 31 Rm 6A32
Bethesda MD 20892-2510
Phone #: 301-496-5248
800 #: --
e-mail: 2020@nei.nih.gov
Home page: http://www.nei.nih.gov/
National Hydrocephalus Foundation
12413 Centralia
Lakewood CA 90715-1623
Phone #: 562-924-6666
800 #: 888-857-3434
e-mail: nhf@earthlink.net
Home page: http://www.nhfonline.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: braininfo@ninds.nih.gov
Home page: http://www.ninds.nih.gov/
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html