$Unique_ID{BRK03630} $Pretitle{} $Title{Craniometaphyseal Dysplasia} $Subject{Craniometaphyseal Dysplasia Osteochondroplasia Pyle's Disease Osteopetrosis Frontometaphyseal Dysplasia} $Volume{} $Log{} Copyright (C) 1989 National Organization for Rare Disorders, Inc. 735: Craniometaphyseal Dysplasia ** IMPORTANT ** It is possible that the main title of the article (Craniometaphyseal Dysplasia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Osteochondroplasia Information on the following diseases can be found in the Related Disorders section of this report: Pyle's Disease Osteopetrosis Frontometaphyseal Dysplasia 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. Craniometaphyseal Dysplasia is a rare genetic disorder that is characterized by head and facial abnormalities, hearing loss and bone deformities of the legs. Symptoms Craniometaphyseal Dysplasia is a genetic disorder that is usually evident at birth. This disorder is characterized by the abnormal growth (hyperostosis) or hardening of the bones of the forehead and back of the head. The facial bones may show thickening, especially at the bridge area of the nose and lower jaw bone (mandible). The nose is abnormally small with narrow nasal passages and inflammation of the mucous membranes (rhinitis). The eyes are widely spaced and bulging (proptosis). If cranial pressure is not relieved there may be facial paralysis, deafness and loss of vision due to compression of the brain and cranial nerves. The limbs may be affected by a hardening (sclerosis) or broadening of the shaft of the long bones close to the growth center (metaphyseal splaying). Intelligence is usually normal. Causes The exact cause of Craniometaphyseal Dysplasia is not known. It is believed to be inherited as an autosomal dominant genetic trait, but may also be inherited as a 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 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 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 a person receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no 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 Craniometaphyseal Dysplasia is a very rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Craniometaphyseal Dysplasia. Comparisons may be useful for a differential diagnosis: Pyle's Disease is often confused with Craniometaphyseal Dysplasia. It is a rare genetic disorder characterized by head and facial abnormalities, and multiple skeletal deformities. Occasionally there may be muscle weakness, joint pain, fractures, an elongated big toe, curvature of the spine (scoliosis) and misplaced teeth. Osteopetrosis is a rare genetic bone disorder. It can be inherited as either a dominant or recessive trait. Initial symptoms of the dominant form of Osteopetrosis may include bone fragility leading to easy fractures and unusual dental problems. Bone pain may occur in the spine, and cranial nerves may be affected. Some vision defects or facial palsy may also be symptomatic of the dominant form of Osteopetrosis. Severe anemia may occur due to obliteration of the bone marrow. A more serious recessive form of Osteopetrosis is present at birth and can be diagnosed by skeletal x-rays. Symptoms may include retardation of growth, enlargement of the head, a deformity of the base of the skull and delayed closure of the soft spot on the skull of infants with this disorder. Vision failure, cataracts, deafness, dental decay, chest deformity and brain damage are also symptomatic of the more severe form of Osteopetrosis. (For more on this disorder, choose "Osteopetrosis" as your search term in the Rare Disease Database.) Frontometaphyseal Dysplasia is a rare genetic disorder characterized by coarse facial features that include a wide nasal bridge, widely spaced eyes, overgrowth of the bone over the eyes (supraorbital bossing), small jawbone (mandible) and an incomplete development of the sinuses. There may also be multiple deformities of the teeth and bones. Occasionally mental retardation may occur. Therapies: Standard Early surgical treatment of Craniometaphyseal Dysplasia to relieve cranial pressure and correct the facial deformities may help eliminate the sight and hearing complications associated with this disorder. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through January 1990. 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 Craniometaphyseal Dysplasia, 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 (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 National Foundation for Facial Reconstruction 550 First Ave. New York, NY 10016 (212) 340-5400 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 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, 8th ed.: McKusick; Johns Hopkins University Press, 1986. Pp. 181, 879. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones, M.D.; W.B. Saunders Co., 1988. Pp. 349. CRANIOMETAPHYSEAL DYSPLASIA. F. Martin; J LARYNGOL OTOL (February 1977, issue 91 (2)). Pp. 159-169. OPTIC ATROPHY AND VISUAL LOSS IN CRANIOMETAPHYSEAL DYSPLASIA. C. Puliafito, et al.; AM J OPTHALMOL (November 1981, issue 92 (5)). Pp. 696- 701. CRANIOMETAPHYSEAL DYSPLASIA--VARIABILITY OF EXPRESSION WITHIN A LARGE FAMILY. P. Breighton, et al.; CLIN GENET (March 1979, issue 15 (3)). Pp. 252-258. AUTOSOMAL DOMINANT CRANIOMETAPHYSEAL DYSPLASIA. CLINICAL VARIABILITY. A. Carnevale, et al.; CLIN GENET (January 1983, issue 23 (1)). Pp. 17-22.