$Unique_ID{BRK04074} $Pretitle{} $Title{Oto-Palato-Digital Syndrome Type I and II} $Subject{Oto-Palato-Digital Syndrome Type I and II Andre Syndrome Cranioorodigital Syndrome Digito-oto-palatal Syndrome Faciopalatoosseous Syndrome FPO OPD Syndrome OPD II Syndrome Otopalatodigital Syndrome Palato-oto-digital Syndrome Taybi Syndrome Oto-Palato-Digital Syndrome Type I Digito-oto-palatal Syndrome Palato-oto-digital Syndrome OPD Syndrome Taybi Syndrome Oto-Palato-Digital Syndrome Type II Digito-oto-palatal Syndrome Palato-oto-digital Syndrome Cranioorodigital Syndrome Otopalatodigital Syndrome OPD II Syndrome Faciopalatoosseous Syndrome FPO Andre Syndrome Craniometaphyseal Dysplasia Frontometaphyseal Dysplasia Larsen Syndrome Oro-Facial-Digital Syndrome Osteopetrosis} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 878: Oto-Palato-Digital Syndrome Type I and II ** IMPORTANT ** It is possible that the main title of the article (Oto-Palato-Digital Syndrome I and II) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Andre Syndrome Cranioorodigital Syndrome Digito-oto-palatal Syndrome Faciopalatoosseous Syndrome FPO OPD Syndrome OPD II Syndrome Otopalatodigital Syndrome Palato-oto-digital Syndrome Taybi Syndrome Disorder Subdivisions: Oto-Palato-Digital Syndrome Type I (Digito-oto-palatal Syndrome, Palato- oto-digital Syndrome, OPD Syndrome, Taybi Syndrome) Oto-Palato-Digital Syndrome Type II (Digito-oto-palatal Syndrome, Palato- oto-digital Syndrome, Cranioorodigital Syndrome, Otopalatodigital Syndrome, OPD II Syndrome, Faciopalatoosseous Syndrome, FPO, Andre Syndrome) Information on the following diseases can be found in the Related Disorders section of this report: Craniometaphyseal Dysplasia Frontometaphyseal Dysplasia Larsen Syndrome Oro-Facial-Digital Syndrome Osteopetrosis 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. Oto-Palato-Digital Syndrome Type I and II are rare genetic disorders in which complete expression of the disease shows up only in males. Females may be mildly affected with some of the symptoms. Type I OPD is inherited through an X-linked recessive trait with variable expression in females while Type II OPD is inherited through an X-linked semi-dominant trait (see section on causes). OPD Type I is typically a milder disorder with fewer symptoms. Some of the characteristics of both disorders may be: cleft palate, a downward slant of the opening between the upper and lower eyelids, hearing loss, and short fingers and toes. Symptoms Patients with Oto-Palato-Digital Syndrome Type I typically have an incomplete closure of the roof of the mouth (cleft palate), a downward slant of the opening between the upper and lower eyelids, hearing loss due to a defect of the middle ear (conductive hearing loss), and abnormal shortness of the fingers and toes. Other symptoms found in some patients with OPD I may be: short, broad thumbs and great toes; wide spaces between the toes; one or more fingers bent to the side; two or more digits united (syndactyly); short fingernails; dislocation of the head of the radius (one of the bones of the forearm); a broad bridge of the nose; mild dwarfism; underdeveloped bones of the face; and/or slow speech development. Females, who are carriers of the disorder, may have an overhanging brow, a depressed nasal bridge, a wide space between the eyes, and a flat midface. The symptoms expressed in females vary and are fewer. Females do not have the full expression of this disorder. Oto-Palato-Digital Syndrome Type II typically has more symptoms than type I. Major characteristics in males with this disorder may be a small head, broad forehead, flat bridge of the nose, wide space between the eyes, small mouth, cleft palate, downward slant of the opening between the upper and lower eyelids, small mouth, small jaw, fingers that are bent and overlap, short fingers and toes, curved long bones of the forearms and legs and occasionally mental retardation. Females, who are carriers for OPD II, may have mild symptoms such as an arched palate in the mouth, broad face, low-set ears, split uvula (the fleshy lobe in the middle of the back border of the soft palate), fingers bent to the side, short stature, and a downward slant of the opening between the upper and lower eyelids. Females do not have the full expression of this disorder. Causes Oto-Palato-Digital Syndrome Type I is inherited through an X-linked recessive trait with variable expression in females. Females do not have all of the typical symptoms of the disorder. Oto-Palato-Digital Syndrome Type II is inherited through an X-linked semi-dominant trait. Females with OPD II may be mildly affected. 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. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Oto-Palato-Digital Syndrome I and II affects males only. Females may have some of the symptoms but there have been no reported cases of a female having all of the typical characteristics of this disorder. There have been approximately thirty cases of OPD I reported in the medical literature and nine cases of OPD II. Related Disorders Symptoms of the following disorders can be similar to those of Oto-Palato- Digital Syndrome Type I and II. Comparisons may be useful for a differential diagnosis: Craniometaphyseal Dysplasia is a rare genetic disorder that is characterized by head and facial abnormalities, hearing loss and bone deformities of the legs. The nose is abnormally small with narrow nasal passages and the eyes are widely spaced and bulging. The limbs may be affected by a hardening or broadening of the shaft of the long bones close to the growth center. Craniometaphyseal Dysplasia is thought to be inherited as an autosomal dominant trait, but may also be inherited as a recessive genetic trait. (For more information on this disorder, choose "Craniometaphyseal" 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, a small jawbone and incomplete development of the sinuses. Multiple deformities of the teeth and bones may also be present. Occasionally mental retardation may occur. Larsen Syndrome is a multi-system genetic disorder that is present at birth. It is characterized by multiple bone dislocations and abnormalities, an extremely high arch of the foot, non-tapering cylindrically shaped fingers, and an unusual facial appearance. In some cases short stature, heart problems, cleft palate or lips, deafness and/or mental retardation may occur. This disorder is inherited through an autosomal dominant or recessive trait. (For more information on this disorder, choose "Larsen" as your search term in the Rare Disease Database). Oro-Facial-Digital Syndrome is a rare genetic disorder in which there have been four types identified. Symptoms common to all types include episodes of neuromuscular disturbances, split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue, a broad based nose, vertical folds of the skin covering the inner angle where the eyelids meet (epicanthic folds), more than the normal number of fingers and/or toes, shorter than normal fingers and/or toes, and more than the normal number of divisions between skull sections. (For more information on this disorder, choose "Oro-Facial-Digital" as your search term in the Rare Disease Database). Osteopetrosis is a rare genetic bone disorder inherited through an autosomal dominant or autosomal recessive trait. Initial symptoms of the dominant form 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. (For more information on this disorder choose "Osteopetrosis" as your search term in the Rare Disease Database). Therapies: Standard Patients with cleft palate require the coordination efforts of a team of specialists. Pediatricians, dental specialists, surgeons, speech pathologists and psychologists all must systematically and comprehensively plan the treatment and rehabilitation. The palate may be repaired surgically or covered by an artificial device that closes or blocks the opening. Speech and language development need to be assisted by a speech pathologist during the preschool years. Treatment of hearing loss in Oto-Palato-Digital Syndrome has been limited due to the severity of deformities. Some patients may benefit from surgical repair. 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 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 Oto-Palato-Digital Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institutes of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 (800) 535-3643 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Foundation for Facial Reconstruction 550 First Avenue New York, NY 11016 (212) 340-6656 National Cleft Palate Association 1218 Grandview Ave. Pittsburgh, PA 15211 1-800-24CLEFT 1-800-23CLEFT National Hearing Association P.O. Box 8897 Metairie, LA 70011 (504) 888-HEAR 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. 1582 and 1702. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 232-234. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1340-1342. TEMPORAL BONE FINDINGS IN A CASE OF OTOPALATODIGITAL SYNDROME: S.R. Shi, Arch Otolaryngol (February, 1985, issue 111(2)). Pp. 119-21.