$Unique_ID{BRK04060} $Pretitle{} $Title{Oculo-Dento-Digital Dysplasia} $Subject{Oculo-Dento-Digital Dysplasia Dento-Oculo-Osseous Dysplasia ODD Syndrome Oculo-Dento-Osseous Dysplasia ODOD Osseous-Oculo-Dento Dysplasia Amelogenesis Imperfecta Ectodermal Dysplasias Oro-Cranio-Digital Syndrome Saethre-Chotzen Syndrome} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 912: Oculo-Dento-Digital Dysplasia ** IMPORTANT ** It is possible that the main title of the article (Oculo-Dento-Digital Dysplasia) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Dento-Oculo-Osseous Dysplasia ODD Syndrome Oculo-Dento-Osseous Dysplasia ODOD Osseous-Oculo-Dento Dysplasia Information on the following diseases can be found in the Related Disorders section of this report: Amelogenesis Imperfecta Ectodermal Dysplasias Oro-Cranio-Digital 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. Oculo-Dento-Digital Dysplasia is a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the genes that occurs for no apparent reason (mutation). Major symptoms of Oculo-Dento- Digital Dysplasia are webbing of the fourth and fifth fingers, an abnormally small transparent part of the eye (microcornea), a slender nose with narrow nostrils, underdevelopment of the outer flaring wall of each nostril (alae), defective enamel and dry hair that grows slowly. Symptoms Oculo-Dento-Digital Dysplasia is a rare disorder characterized by webbing of the fourth and fifth fingers, an abnormally small transparent front part of the eye (cornea), a slender nose, underdeveloped outer walls of each nostril, narrowing of the nostrils, defective enamel of the teeth and dry hair that grows slowly. Other symptoms that may be present in some patients with Oculo-Dento- Digital Dysplasia are: a thick lower jaw; an abnormally small head; permanent bending of the fourth and fifth fingers; webbing and/or permanent bending of the second third and fourth toes; abnormally small teeth; eyes that do not look in the same direction (strabismus); a build-up of fluid pressure in the eyeball (glaucoma); a short, narrow opening between the upper and lower eyelids; a vertical fold over the inner corner of the eye; atrophy of the eye; cleft lip and/or palate; and bone abnormalities in the toes and fifth finger. It is felt that there may be another form of Oculo-Dento-Digital Dysplasia in which the eye and skeletal changes are more severe. There have only been a few cases of this severe form documented and it is thought they may have been inherited as an autosomal recessive trait. The eyes are smaller than normal, slanted, set wide apart and blindness may occur. Skeletal abnormalities include overgrowth of the lower jaw, excessive thickening of bone tissue in the skull, an abnormally wide collarbone, and calcium deposits in the lobes of the ear. Other symptoms found in patients with autosomal recessive Oculo-Dento- Digital Dysplasia are a long narrow nose with underdeveloped outer flaring walls of the nostrils, irregular teeth with abnormal enamel, and webbing of the fourth and fifth fingers. Causes Oculo-Dento-Digital Dysplasia may be inherited as an autosomal dominant trait or as a new change in the genes that occurs spontaneously (mutation). There has also been an autosomal recessive form of the disorder documented but there has been very little evidence to support it. 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 Oculo-Dento-Digital Dysplasia is a very rare disorder that affects males and females in equal numbers. There have been approximately eighty-five cases reported in the medical literature. The autosomal recessive form of this disorder has only been documented in three cases. Related Disorders Symptoms of the following disorders can be similar to those of Oculo-Dento- Digital Dysplasia. Comparisons may be useful for a differential diagnosis: Amelogenesis Imperfecta is a rare genetic disorder characterized by a developmental defect of the tooth enamel. Secondary effects of this disorder may be early tooth loss, heightened susceptibility to disease of the tissues surrounding the teeth and increased sensitivity of the teeth to hot and cold. There are multiple types of this disorder and it is inherited through various modes of transmission. (For more information on this disorder, choose "Amelogenesis Imperfecta" as your search term in the Rare Disease Database). The Ectodermal Dysplasias are a group of hereditary, nonprogressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, it's derivatives, and some other organs are involved. Patients have abnormal enamel on their teeth or missing teeth, and absent or unusual hair on their head. (For more information on this disorder choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database). Oro-Cranio-Digital Syndrome is a very rare disorder that is thought to possibly be inherited as an autosomal recessive trait. Symptoms of this disorder may be an abnormally small head, abnormalities of the thumbs and toes, growth retardation and cleft lip and/or palate. This disorder affects females slightly more often than males. Saethre-Chotzen Syndrome is a rare disorder thought to be inherited as an autosomal dominant trait. This disorder involves various craniofacial and skeletal malformations with abnormalities of the skin on the toes and finger. Short stature, and in some cases, mild to moderate mental retardation may also occur. (For more information on this disorder, choose "Saethre-Chotzen Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Patients with Oculo-Dento-Digital Dysplasia may benefit from surgery to repair the webbed fingers and bone malformations. Full crown restorations may be used to correct the defect in the enamel of the teeth. The crossed eyes (strabismus) may be corrected by wearing a patch over the strong eye in order to strengthen the weak eye. This procedure must be done at a young age in order to be affective. Surgery may also be performed in some cases. In older people whose strabismus is beyond the age of correction, the orphan drug Oculinum can be injected around the eye muscles to correct the crossed eyes. Injections must be repeated every few months. 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 May 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 Oculo-Dento-Digital Dysplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 468-3235 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 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, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 668-9 and 1390-91. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1276-77.