$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.