$Unique_ID{BRK03757} $Pretitle{} $Title{Frontofacionasal Dysplasia} $Subject{Frontofacionasal Dysplasia Facio-fronto-nasal Dysplasia Frontofacionasal Dysostosis Nasal-fronto-faciodysplasia Cranio-Fronto-Nasal Dysplasia Median Cleft Face Syndrome} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 924: Frontofacionasal Dysplasia ** IMPORTANT ** It is possible that the main title of the article (Frontofacionasal 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 Facio-fronto-nasal Dysplasia Frontofacionasal Dysostosis Nasal-fronto-faciodysplasia Information on the following diseases can be found in the Related Disorders section of this report: Cranio-Fronto-Nasal Dysplasia Median Cleft Face 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. Frontofacionasal Dysplasia is a very rare disorder in which the patient is born with abnormalities of the skull and face. Cleft lip and palate as well as premature closing of the soft spot (coronal suture) on the top of the head causing excess growth of the head from side to side. A variety of malformations of the eyes, nose and bones of the skull may also be present. Frontofacionasal Dysplasia is inherited as an autosomal recessive genetic trait. Symptoms Frontofacionasal Dysplasia is a very rare disorder characterized by abnormalities of the skull and face. Cleft palate and cleft lip are two of the major features of this disorder. A cleft occurs when the roof of the mouth has not completely closed at birth. This opening is due to the failure of the upper jaw bones to properly fuse together during development of the embryo. Premature closing of the soft spot (coronal suture) on the top of an infants head causes excess growth of the head from side to side. The outside edges of the eyelids may be fused together narrowing the opening (blepharophimosis) of the eyes. The eyelids may droop downward (ptosis) and there may be an S-shaped opening between the upper and lower eyelids. Tumors (dermoid) of the eye, a cleft along the edge of the eyeball (coloboma), missing or sparse eyelashes, an inability to close the lower eyelids fully (lagophthalmos), adhesions between the upper and lower eyelids, and an abnormally wide space between the eyes may also be present. A covered split in the skull (cranium bifidum occultum), a gap in the skull in which there is a protrusion of the membranes that cover the brain (encephalocele) as well as a tumor of fatty tissue (lipomata) on the frontal lobe of the brain may also be present. Causes Frontofacionasal Dysplasia is inherited as an autosomal recessive genetic trait. A hereditary or "blood" relationship between parents (consanguinity) has been reported in all cases of this disorder. (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 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 There have been only three cases of Frontofacionasal Dysplasia reported in the medical literature. A brother and sister from one family and a female from another. All three cases came from Brazil. Related Disorders Symptoms of the following disorders can be similar to those of Frontofacionasal Dysplasia. Comparisons may be useful for a differential diagnosis: Cranio-Fronto-Nasal Dysplasia is a rare disorder thought to be inherited as an autosomal dominant genetic trait with a wide variance in how it expresses itself. Widely spaced eyes, a missing or grooved tip of the nose, and a broad nasal bridge are typically present. Other abnormalities found in this disorder may be a wide mouth, fingers or toes that have grown together, a broad index finger, split nails, a malformed collarbone and a broad tall forehead. Median Cleft Face Syndrome is a rare disorder that occurs for no apparent reason (sporadically). This disorder affects males and females equally and is characterized by a widely spaced central portion of the face. The nasal groove along the middle of the nose can vary greatly in severity from a missing nasal tip to separation of the nose into two parts. The eyes may be widely spaced and some patients may have split-skull in the front as well as hair in a V shape in the front (widow's peak). There may also be other less common physical abnormalities present. There are many rare craniofacial disorders with facial characteristics similar to Frontofacionasal Dysplasia. For more information on these disorders, choose "craniofacial" as your search term in the Rare Disease Database. Therapies: Standard Treatment of cleft lip and/or palate requires the coordinated efforts of a team of specialists. Pediatricians, dental specialists, surgeons, speech pathologists, psychologists and others must systematically and comprehensively plan the child's treatment and rehabilitation. Cleft lip can be corrected by surgery. Surgeons usually repair the lip when the child is still an infant. A second surgery is sometimes necessary for cosmetic purposes when the child grows older. Cleft Palate may be repaired by surgery or covered by an artificial device (prosthesis) that closes or blocks the opening in the mouth. Surgical repair can be carried out in stages or in a single operation, according to the nature and severity of the defect. The first palate surgery is usually scheduled during the toddler period. Dental problems associated with clefts are also nearly always correctable. Braces are frequently needed later to straighten teeth that have grown in crooked. Routine testing of hearing should be scheduled for all preschool children with clefts of the palate. They may require tubes placed in their ears to drain congestion and improve hearing. When an encephalocele or cranium bifidum occultum are present on the skull surgery is performed to correct the deformity. Other surgical procedures can be used to improve the facial structure of people with Frontofacionasal Dysplasia. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Orphan Products: The palate of cleft palate patients is closed during early childhood but difficulties may persist if the palate is excessively short in relationship to the pharynx. Researchers are studying a teflon-glycerine paste that is applied to the rear of the pharynx in a minor surgical procedure. A rounded bump or ledge is formed, bringing the pharynx and palate into the proper relationship with each other. The hardened paste remains in place indefinitely; no side effects have been observed. Children as young as eight years old have been treated with this procedure. For further information on this procedure contact: William N. Williams, D.D.S. University of Florida College of Dentistry Box J-424 Gainesville, FL 32610 (904) 392-4370 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 August 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 Frontofacionasal Dysplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Craniofacial Foundation 3100 Carlisle St., Suite 215 Dallas, TX 75204 (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 Ave. New York, NY 10016 (212) 340-5400 About Face 99 Crowns Lane Toronto, Ontario M5R 3PA Canada (416) 944-3223 NIH/National Institute of Child Health and Human Development 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, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1186. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 749. FRONTOFACIONASAL DYSPLASIA: EVIDENCE FOR AUTOSOMAL RECESSIVE INHERITANCE: T.R. Gollop et al.; Am J Med Genet (October, 1984, issue 19(2)). Pp. 301-5.