Acrocallosal Syndrome, Schinzel Type
National Organization for Rare Disorders, Inc.
- Absence of Corpus Callosum, Schinzel Type
- Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum
- Schinzel Acrocallosal Syndrome
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).
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
1825 K Street NW, Suite 1200
Washington, DC 20006
National Hydrocephalus Foundation
12413 Centralia Rd.
Lakewood, CA 90715-1653
Let's Face It
University of Michigan, School of Dentistry / Dentistry Library
1011 N. University
Ann Arbor, MI 48109-1078
P.O. Box 751112
Limekiln, PA 19535
4340 East West Highway Ste 950
Bethesda, MD 20814
8301 Professional Place
Landover, MD 20785-7223
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
National Organization for Disorders of the Corpus Callosum
18032-C Lemon Drive
Yorba Linda, CA 92886
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Last Updated: 8/8/2007
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