$Unique_ID{BRK03884} $Pretitle{} $Title{Jackson-Weiss Syndrome} $Subject{Jackson-Weiss Syndrome Craniosynostosis Midfacial Hypoplasia Foot Abnormalities Jackson-Weiss Craniosynostosis Apert Syndrome Carpenter Syndrome Crouzon Disease Pfeiffer Syndrome Saethre-Chotzen Syndrome } $Volume{} $Log{} Copyright (C) 1993 National Organization for Rare Disorders, Inc. 933: Jackson-Weiss Syndrome ** IMPORTANT ** It is possible that the main title of the article (Jackson-Weiss 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, Midfacial Hypoplasia, and Foot Abnormalities Jackson-Weiss Craniosynostosis Information on the following diseases can be found in the Related Disorders section of this report: Apert Syndrome Carpenter Syndrome Crouzon Disease Pfeiffer Syndrome Saethre-Chotzen 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. Jackson-Weiss Syndrome is a rare disorder inherited as an autosomal dominant genetic trait. This disorder is characterized by permanent premature closure of the bones of the skull (craniosynostosis) along with abnormalities of bones in the face and feet. Typically the deformities of the feet include fusion of the bones of the upper foot along with malformed great toes. Symptoms of this disorder can vary within a family from mild to severe. Symptoms Jackson-Weiss Syndrome is a rare disorder in which the symptoms may vary from mild to severe. The most common symptoms that have been found in affected patients include: premature closure of the bones of the skull (Craniosynostosis); an underdeveloped jaw; widely spaced eyes (hypertelorism); down-slanting eyes; drooping eyelids (ptosis); crossed eyes (strabismus); abnormalities of the outer ear; a flat bridge of the nose; a beaked nose; failure of the upper jaw bones to properly fuse together causing an opening in the roof of the mouth (cleft palate); a high arched palate; and/or an accumulation of fluid in the skull (hydrocephaly). (For more information on these disorders choose "Craniosynostosis" or "Hydrocephalus" as your search terms in the Rare Disease Database). Premature closure of the bones of the skull (craniosynostosis) may cause disturbances in vision, headaches and/or excessive pressure within the skull. Other symptoms that have been found in some patients with Jackson-Weiss Syndrome include: fingers and/or toes that may be webbed (syndactyly), short, bent abnormally or may have bones missing; limited joint movement; mental retardation; and/or a condition in which the knees are close together with the ankles widely spaced (genu valgum). Causes Jackson-Weiss Syndrome is a rare disorder inherited as an autosomal dominant genetic trait with incomplete penetrance. Symptoms varying from mild to severe. 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 dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Incomplete penetrance means that all characteristics of a particular trait may not be manifested in all those who inherit the gene. Affected Population Jackson-Weiss Syndrome is a very rare disorder that affects males and females in equal numbers. There have been over one hundred and thirty cases of this disorder reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Jackson-Weiss Syndrome. Comparisons may be useful for a differential diagnosis: Apert Syndrome is a rare disorder inherited as an autosomal dominant genetic trait. This disorder is characterized by fused or webbed fingers and toes (syndactyly), a pointed head (acrocephaly or oxycephaly), other skeletal and facial abnormalities, and mental retardation. (For more information on this disorder, choose "Apert Syndrome" as your search term in the Rare Disease Database). Carpenter Syndrome is a rare disorder inherited as an autosomal recessive genetic trait. This disorder is characterized by an unusual shape of the head (oxycephaly) as well as deformities of the hands (branchysyndactyly) and feet (preaxial polydactyly). (For more information on this disorder, choose "Carpenter Syndrome" as your search term in the Rare Disease Database). Crouzon Disease is a rare disorder inherited as an autosomal dominant genetic trait. Symptoms of this disorder may be: abnormalities of the skull, face and brain due to premature closure of the bones of the skull; swelling of the optic disk inside the eye; impaired vision; hearing loss; a beaked- shaped nose; an underdeveloped lower jaw; and/or a high arched palate. (For more information on this disorder, choose "Crouzon Disease" as your search term in the Rare Disease Database). Pfeiffer Syndrome is a rare disorder inherited as an autosomal dominant genetic trait. This disorder is characterized by a short, pointed head (acrobrachycephaly) and abnormalities of the face, jaws and teeth. Webbed fingers or toes (syndactyly) and other abnormalities of the thumbs and big toes may also occur. Symptoms can vary from mild to severe. (For more information on this disorder, choose "Pfeiffer Syndrome" as your search term in the Rare Disease Database). Saethre-Chotzen Syndrome is a rare disorder thought to be inherited as an autosomal dominant genetic trait. This disorder is characterized by a small head (microcephaly), premature closure of the bones of the skull (craniosynostosis), mildly fused webbed fingers and/or toes (syndactyly), and facial abnormalities. (For more information on this disorder choose "Saethre-Chotzen Syndrome" as your search term, in the Rare Disease Database). Therapies: Standard Patients with Jackson-Weiss Syndrome may benefit from surgery to correct the craniosynostosis, cleft palate, and/or abnormalities of the hands and feet. Speech therapy may be needed when cleft palate is present. 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 Jackson-Weiss 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 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 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT NIH/National Institute of Child Health and Human Development (NICHHD) 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, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 279. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 467-68. CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA AND FOOT ABNORMALITIES: AN AUTOSOMAL DOMINANT PHENOTYPE IN A LARGE AMISH KINDRED: C.E. Jackson, et al.; J Pediatr (June, 1976, issue 88(6)). Pp. 963-8.