$Unique_ID{BRK03631} $Pretitle{} $Title{Craniosynostosis, Primary} $Subject{Craniosynostosis Primary Craniostenosis CSO Kleeblattschadel Deformity Plagiocephaly Scaphocephaly Trigonocephaly Turricephaly Kleeblattschadel Deformity Plagiocephaly Scaphocephaly Trigonocephaly Turricephaly} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 932: Craniosynostosis, Primary ** IMPORTANT ** It is possible that the main title of the article (Primary Craniosynostosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Craniostenosis CSO Kleeblattschadel Deformity Plagiocephaly Scaphocephaly Trigonocephaly Turricephaly Disorder Subdivisions: Kleeblattschadel Deformity Plagiocephaly Scaphocephaly Trigonocephaly Turricephaly 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. Primary Craniosynostosis is a rare disorder of the skull that may be inherited as an autosomal dominant or autosomal recessive genetic trait. Premature closure of the bones (sutures) in the skull result in an abnormally shaped head. The severity of symptoms and shape of the skull depend on which skull bones are prematurely closed. This disorder is present at birth. Symptoms Primary Craniosynostosis is a rare disorder characterized by premature closure of the bones of the skull. The shape of the head may be altered while the size is normal. The shape of the skull depends on which type of premature closure the patient is born with. Kleeblattschadel Deformity is a type of craniosynostosis in which there is premature closure of multiple or all bones of the skull (sutures). This condition causes the head to form a cloverleaf shape. The head may be larger than normal due to accumulation of fluid (hydrocephaly) in the skull. Plagiocephaly is a form of craniosynostosis in which the coronal joint of the skull closes on one side. This causes the head to look twisted or lopsided. The forehead and orbit of the eye are flat on one side. Bulging of the forehead may be apparent. This form of the disorder is more common in females. Scaphocephaly is a form of craniosynostosis in which the sagittal joint is closed prematurely. This is the line where the two bones that form the side of the skull meet. Premature closure of this suture causes a long narrow head. Scaphicephaly is the most common form of craniosynostosis. Trigonocephaly is a form of craniosynostosis in which there is premature closure of the bones of the forehead (metopic suture). This condition causes a keel-shaped forehead and eyes that are set close together (hypotelorism). Patients with this form of craniosynostosis are at risk for abnormal development of the forebrain. Turricephaly is characterized by premature closure of both the coronal and sagittal joints of the skull. This causes an upward growth of the head giving it a long narrow appearance with a pointed top. Causes Primary Craniosynostosis is a rare disorder that may be inherited as an autosomal recessive or autosomal dominant 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 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. 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 Primary Craniosynostosis is a rare disorder that generally affects males slightly more often than females. There have been a few hundred cases of this disorder reported in the medical literature. The genetically recessive cases of this disorder in the United States have been associated with people of Amish ancestry in Ohio. Related Disorders The following disorders may be associated with Craniosynostosis as secondary characteristics. They are not necessary 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 characterize by an unusual shape of the head (oxycephaly) as well as deformities of the hands (brachysyndactyly) 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 beak- 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 (crainiosynostosis), 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 When multiple premature closures of the skull are present, surgery may be performed to prevent pressure and possible brain damage. Surgery may also be performed for cosmetic reasons. 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 October 1992. 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 Primary Craniosynostosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203)-746-6518 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 (800) 535-1632 About Face 99 Crowns Lane Toronto, Ontario M5R 3PA Canada (416) 944-3223 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. 278-9, 1303-3. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 464. NELSON TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman, M.D., Editor: W.B. Saunders Company, 1992. Pp. 1490-91. A POPULATION-BASED STUDY OF CRANIOSYNOSTOSIS: L.R. French, et al.; J Clin Epidemiol (1990, issue 43(1)). Pp. 69-73. CRANIOSYNOSTOSIS: AN ANALYSIS OF THE TIMING, TREATMENT, AND COMPLICATIONS IN 164 CONSECUTIVE PATIENTS: L.A. Whitaker, et al.; Plast Reconstr Surg (August, 1987, issue 80(2)). Pp. 195-212.