$Unique_ID{BRK03885} $Pretitle{} $Title{Jarcho-Levin Syndrome} $Subject{Jarcho-Levin Syndrome Spondylothoracic Dysplasia Spondylocostal Dysplasia - Type I Thanatophoric Dysplasia } $Volume{} $Log{} Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc. 704: Jarcho-Levin Syndrome ** IMPORTANT ** It is possible that the main title of the article (Jarcho-Levin Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Spondylothoracic Dysplasia Spondylocostal Dysplasia - Type I Information on the following disease can be found in the Related Disorders section of this report: Thanatophoric 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. Jarcho-Levin Syndrome is a progressive genetic disorder characterized by deformities of the head, face, thorax, spine and hands. Symptoms Jarcho-Levin Syndrome is characterized by multiple deformities that may include a broad forehead, a wide nasal bridge, nostrils that are tipped forward (antiverted nares), upwardly slanted eyelids, and an enlarged posterior skull. There may also be a short neck, thorax (the area between the neck and the diaphragm) and trunk, respiratory difficulties, rib deformities, and spinal abnormalities such as neural defects and multiple missing vertebrae. The fingers are usually webbed (syndactyly), elongated and permanently bent (campodactyly). Occasionally distention of the stomach and pelvis may occur due to an obstruction of the bladder. Undescended testicles, absent external genitalia, a double uterus, closed or absent anal and bladder openings, a single umbilical artery, and defects of the brain may also be present. Causes The exact cause of Jarcho-Levin Syndrome is unknown. It is believed to be inherited through autosomal recessive genes. There is also a mild variant thought to be transmitted very rarely through an autosomal dominant gene. 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 Jarcho-Levin Syndrome is a very rare disorder that affects males and females in equal numbers. There seems to be a higher incidence of this disorder in people with Spanish heritage. Related Disorders Some of the symptoms of the following disorder may be similar to those of Jarcho-Levin Syndrome: Thanatophoric Dysplasia is a progressive genetic disorder that is characterized by severe growth deficiencies, a large head (hydrocephalus), a low nasal bridge, and small face. There may also be a small thorax with short ribs, short flattened vertebrae, obstruction of the kidney (hydronephrosis), and a closed or absent anus (atresia). Therapies: Standard Treatment of Jarcho-Levin Syndrome is sympathetic and supportive. Genetic counseling may be of benefit for families of people with this disorder. Therapies: Investigational The Titanium Rib Project is underway to implant expandable ribs in patients with disorders involving missing, underdeveloped or otherwise malformed ribs cages, ribs or chest walls. Absent areas due to surgery or birth defects, fused ribs or hypoplastic chests may be improved using the titanium ribs which can be expanded as the child grows. Interested persons may contact: Dr. Robert Campbell Santa Rosa Children's Hospital 519 W. Hopuston St. San Antonio, TX 78207-3198 (512) 567-5125 This disease entry is based upon medical information available through September 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 Jarcho-Levin Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 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, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1226, 179. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones, M.D.; W.B. Saunders Co., 1988. Pp. 536. PRENATAL FINDINGS IN A CASE OF SPONDYLOCOSTAL DYSPLASIA I (JARCHO-LEVIN) SYNDROME). R. Romero et al.; OBSTET GYNECOL (June 1988; Issue 6 (2)). Pp. 988. NEURAL DEFECTS IN JARCHO-LEVIN SYNDROME. M.G. Reyes et al.; J CHILD NEUROL, (January 1989; Issue 4 (1)). Pp. 51.