$Unique_ID{BRK03795} $Pretitle{} $Title{Hajdu-Cheney Syndrome} $Subject{Hajdu-Cheney Syndrome Acroosteolysis with Osteoporosis and Changes in Skull and Mandible Arthro-dento-osteodysplasia Cheney Syndrome Gaucher's Disease Gorham's Disease Kienboeck Disease Legg-Calve-Perthes Syndrome Osteonecrosis} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 882: Hajdu-Cheney Syndrome ** IMPORTANT ** It is possible that the main title of the article (Hajdu-Cheney Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivision covered by this article. Synonyms Acroosteolysis with Osteoporosis and Changes in Skull and Mandible Arthro-dento-osteodysplasia Cheney Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Gaucher's Disease Gorham's Disease Kienboeck Disease Legg-Calve-Perthes Syndrome Osteonecrosis 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. Hajdu-Cheney Syndrome is a rare disorder affecting the connective tissue which supports and joins other body tissues and parts. The most distinctive feature in patients with this disorder is a condition in which the palms of the hands and soles of the feet have ulcerating lesions with softening and destruction of bones (acro-osteolysis). There is also abnormal development in bone, joints and teeth. A decrease in bone mass and changes in the skull and jawbone are also features of this syndrome. The majority of cases are of unknown cause but multiple cases have been reported in families, suggesting autosomal dominant genetic transmission. Symptoms The main symptoms of Hadju-Cheney Syndrome are: 1. Acro-osteolysis - a condition in which the palms of the hands and soles of the feet have ulcerating lesions and there is softening, absorption and destruction of bony tissue. 2. Wormian Bones - tiny, smooth, segmented bones that are soft, moist and warm to the touch. 3. A small, recessed jaw bone (mandible). 4. Osteoporosis - a decrease in bone mass making a person susceptible to bone fractures and compression of the spine. 5. A thick depression in the back of the head. 6. Persistent open joint between the bones of the cranium. 7. Loose joints (e.g., wrists, knees, etc.). 8. Early loss of teeth. Other symptoms of this disorder may be: 9. Short stature - usually due to the decrease in growth because of collapse of the spinal column. 10. Small or missing frontal sinus. 11. Unequal growth of the long bones that may cause dislocations of the bones, bowing, or outward twisting of the knees. 12. Dislocation of the bone that forms the front point of the knee (patella). 13. High, narrow roof of the mouth (palate). 14. Hernia - break through of an organ through a tear in the muscle wall that surrounds it. 15. Projecting ears. 16. A deep voice. 17. Distinctive facial features - such as a short neck, thick eyebrows, coarse hair, and low set ears. 18. Hearing loss. 19. Syndactyly - the fingers or toes grow together. Causes The majority of cases of Hajdu-Cheney Syndrome are thought to occur for no apparent reason. Multiple cases of this disorder occuring in one family are thought to be inherited as an autosomal dominant 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 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. Affected Population Hajdu-Cheney Syndrome affects males and females in equal numbers. This disorder is very rare. There have been approximately 30 reported cases in the medical literature. Hajdu-Cheney Syndrome has been found in the United States, western and central Europe. Related Disorders Symptoms of the following disorders can be similar to those of Hajdu-Cheney Syndrome. Comparisons may be useful for a differential diagnosis: Gaucher Disease is an inherited disease of lipid metabolism caused by the failure to produce the enzyme glucocerebrosidase. There are three types of Gaucher's Disease - Types I, II, and III. In Types I and III bone deterioration is the major problem and can affect any part of the body. Other symptoms of Type I and III may include an enlarged spleen or liver, a low blood count, bone pain, gastric problems or delayed growth. In Type III seizures, mental retardation, abnormal eye movement, or jerking motions of the limbs, head, and upper body may also occur. (For more information on this disorder choose "Gaucher" as your search term in the Rare Disease Database). Gorham's Disease is an extremely rare bone disorder characterized by bone loss often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss may occur in just one bone or spread to soft tissue and adjacent bone in such places as the hand, arm, shoulder, ribs, part of the pelvis, thighbone, or jaw. This disorder affects males slightly more often than females and occurs in all age groups. (For more information on this disorder choose "Gorham" as your search term in the Rare Disease Database). Kienboeck Disease is an acquired bone disorder of the wrist caused by inflammation or injury. Degenerative changes of the lunate bone occur such as softening, deterioration, fragmentation or compression. These changes may produce pain, swelling, tenderness, thickening and/or stiffness in the overlying tissues of the wrist. The range of motion may become restricted. Healing occurs through formation of new bone in some cases. (For more information on this disorder choose "Kienboeck" as your search term in the Rare Disease Database). Legg-Calve-Perthes Syndrome is a rare bone disorder affecting the hip joint. Abnormalities in bone growth early in life may result in permanent deformity of the hip joint several years later. The bone may become shorter than normal, causing a noticeable limp. (For more information on this disorder choose "Legg-Calve-Perthes" as your search term in the Rare Disease Database). Osteonecrosis is the destruction of a bone (necrosis) due to inadequate circulation of blood. It most commonly affects the joints and bones of the hips, knees or shoulder. It often occurs as the result of bone injuries or in conjunction with other diseases and conditions. (For more information on this disorder choose "Osteonecrosis" as your search term in the Rare Disease Database). Therapies: Standard Patients with Hajdu-Cheney Syndrome should have regular neurological checkups in order to detect any complications due to the bone abnormalities. Hearing and sight should be checked when this disorder has been diagnosed. To help prevent developmental delay and proper muscle and skeletal function, occupational and physical therapy may be used. When patients have severe destruction of bony tissue, surgery and/or bone grafting may be performed. 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 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 Hadju-Cheney Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Coalition of Heritable Disorders of Connective Tissue c/o National Marfan Foundation 382 Main St. Port Washington, NY 11050 (516) 944-5412 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 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. 17-18. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 827-829. CERVICAL INSTABILITY AS AN UNUSUAL MANIFESTATION OF HAJDU-CHENEY SYNDROME OF ACROOSTEOLYSIS: D. Herscovici Jr., et al.; Clin Orthop (June, 1990, issue 255). Pp. 111-6. A 20 YEAR FOLLOW-UP STUDY OF A CASE OF SURGICALLY TREATED MASSIVE OSTEOLYSIS: S. Turra, et al.; Clin Orthop (January, 1990, issue 250). Pp. 297-302. HIGH TURNOVER OSTEOPOROSIS IN ACRO-OSTEOLYSIS (HAJDU-CHENEY SYNDROME): V. Nunziata, et al.; J Endocrinol Invest (March, 1990, issue 13(3)). Pp. 251-5.