$Unique_ID{BRK03636} $Pretitle{} $Title{Crouzon Disease} $Subject{Crouzon Disease Craniofacial Dysostosis Craniostenosis Crouzon Craniofacial Dysostosis Acrocephalosyndactyly II Apert-Crouzon Disease Oxycephaly-Acrocephaly Virchow's Oxycephaly Vogt's Cephalosyndactyly Apert Syndrome Saethre-Chotzen Syndrome Carpenter Syndrome Craniosynostosis} $Volume{} $Log{} Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders, Inc. 419: Crouzon Disease ** IMPORTANT ** It is possible the main title of the article (Crouzon Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and relate disorders covered by this article. Synonyms Craniofacial Dysostosis Craniostenosis Crouzon Craniofacial Dysostosis Acrocephalosyndactyly II Apert-Crouzon Disease Oxycephaly-Acrocephaly Virchow's Oxycephaly Vogt's Cephalosyndactyly Information on the following diseases can be found in the Related Disorders section of this report: Apert Syndrome Saethre-Chotzen Syndrome Carpenter Syndrome Craniosynostosis 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. Crouzon Disease is a genetic disorder characterized by abnormalities in the skull, face, and brain caused by premature hardening of the skull. The skull is made up of several bony plates initially joined by fibrous connective tissue which normally fuse together and harden over a period of several years after growth of the brain. Facial deformities are often present at birth and may progress with time. Vision disturbances and deafness can develop in some cases. With treatment, pressure inside the skull may be relieved and major symptoms may improve. Symptoms In Crouzon Disease ocular symptoms may include an unusually wide distance between the eyes, a condition in which the eyes do not look in the same direction (strabismus), and protrusion of the eyeballs. Swelling of the optic disk inside the eye and optic atrophy may develop. Impaired vision and/or hearing loss may be present in some cases. The nose may be beak- shaped and can have a defect in the dividing cartilage (deviated septum). The upper jaw may be underdeveloped, the upper lip shortened, and the lower lip and tongue tend to protrude. The head may be pointed, the forehead widened, and in some cases the roof of the mouth (palate) may be high, arched or shortened. Dental malformations may also occur. Without early treatment, increased pressure in the skull may cause headaches, vomiting and/or convulsions. Facial features may continue to change with time. In severe cases, mental impairment may develop as a consequence of increased pressure on the brain and cranial nerves. Causes Crouzon Disease is inherited as an autosomal dominant trait. Symptoms are caused by premature fusion or closure of the fibrous or "soft" parts of the skull. When this happens, the brain and face may not be able to grow normally. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, 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 normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Crouzon Disease affects males and females in equal numbers. Onset occurs before birth. It is a very rare craniofacial disorder. Related Disorders Symptoms of the following disorders can be similar to Crouzon Disease. Comparisons may be useful for a differential diagnosis: Apert Syndrome, also known as Acrocephalosyndactyly Type I, is characterized by fused or webbed fingers and toes (syndactyly), a pointed head, other skeletal and facial abnormalities, and mental retardation. It is inherited as an autosomal dominant trait. Symptoms are present at birth. (For more information on Apert Syndrome, choose "Apert" as your search term in the Rare Disease Database). Saethre-Chotzen Syndrome, also known as Acrocephalosyndactyly Type III, is a hereditary disorder involving various craniofacial and skeletal malformations with abnormalities of the skin on the toes and fingers. Short stature, and in some cases mild to moderate mental retardation may also occur. Facial characteristics may improve with time. (For more information on Saethre-Chotzen Syndrome, choose "Saethre-Chotzen" as your search term in the Rare Disease Database). Carpenter Syndrome, also known as Acrocephalopolysyndactyly, is characterized by skeletal and skin abnormalities present at birth. Major symptoms may include a pointed head, abnormal shortness of fingers with webbing between them, and the presence of more than five toes on each foot. This disorder may sometimes be associated with mental retardation. Craniosynostosis is a bone growth abnormality caused by premature fusion or closure of the fibrous or "soft" parts of the skull. When this happens, the brain and face may not be able to grow normally. Craniosynostosis can be associated with a variety of genetic syndromes such as Crouzon Disease, or it can occur sporadically. Therapies: Standard Treatment of Crouzon Disease involves surgery to relieve pressure inside the skull. This can be done by separating the bony sections and lining the seams between them with polyethylene or other materials to prevent fusion. Various other craniofacial reconstructive procedures may benefit patients allowing them to lead a normal life. Medication, corrective eye glasses, or eye surgery may help to correct various vision disturbances. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Researchers at Johns Hopkins Hospital are trying to determine the genes responsible for craniofacial disorders. Physicians may contact Drs. Amy Feldman Lewanda or Ethylin Wang Jabs at: CMSC 10, Johns Hopkins Hospital, Baltimore, MD, 21205, (301) 955-0484. This disease entry is based upon medical information available through April 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 Crouzon disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE Meniere Crouzon Syndrome Support Network 2375 Valentine Dr., #9 Prescott, AZ 86303 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Society For the Rehabilitation of the Facially Disfigured, Inc. 550 First Avenue New York, NY 10016 (212) 340-5400 About Face 99 Crowns Lane Toronto, Ontario M6R 3PA Canada (416) 944-3223 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 For genetic information and genetic counseling referrals, please contact: 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 DEVELOPMENTAL ABNORMALITIES: A.B. Baker and Robert J. Joynt; In: Clinical Neurology. Harper & Row, Publishers. 1986, Revised Edition. Pp. 71-74. PREMATURE CLOSURE OF THE CRANIAL SUTURES: Lewis P. Roland and Charles Kennedy; In: Merritt's Textbook of Neurology. Lea & Febiger. 1984, 7th Edition. Pp. 376-379. THREE-DIMENSIONAL CAT SCAN RECONSTRUCTION--PEDIATRIC PATIENTS: K.E. Salyer, et al.; Clin Plast Surg (July 1986, issue 13(3)). 463-474.