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Hajdu Cheney Syndrome

Synonyms of Hajdu Cheney Syndrome

  • acro-dento-osteo-dysplasia
  • acroosteolysis dominant type
  • acroosteolysis with osteoporosis and changes in skull and mandible
  • Arthrodentoosteodysplasia
  • Cheney syndrome
  • HCS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Hajdu-Cheney syndrome (HCS) is a rare, heritable disorder of connective tissue; only about 50 cases have been reported in the medical literature. The breakdown of bone (osteolysis), especially the outermost bones of the fingers and toes (acroosteolysis), is a major characteristic of HCS.

In addition, patients with HCS frequently have skull deformities, short stature, joint laxity, reduction of bone mass (osteoporosis) and other signs. Most affected individuals have normal mental development but a small proportion show mild mental retardation.

Although the majority of cases are of unknown cause, the presence of multiple cases in one family suggests that autosomal dominant genetic transmission may be possible.

Symptoms

Hajdu-Cheney syndrome is a rare connective tissue disorder characterized by ulcerating lesions of the palms of the hands and soles of the feet, and softening, absorption, and destruction of bones (acroosteolysis). Affected individuals may also have tiny, smooth segmented bones that are soft, moist, and warm to the touch (wormian bones); a small recessed jaw bone (mandible); a thick depression in the back of the head; and a persistent open joint between the bones of the cranium.

Individuals with Hajdu-Cheney syndrome may also have loose joints (e.g., wrists and knees); webbing or fusion of the fingers and toes (syndactyly); and/or develop a condition called osteopetrosis. Osteopetrosis is characterized by a decrease in bone mass. This decrease makes an affected person susceptible to bone fractures and compression of the spine. (For more information on this disorder, choose "Osteopetrosis" as your search term in the Rare Disease Database.)

Other symptoms of Hajdu-Cheney syndrome may be short stature, which may be caused by the compression of the spinal column; dislocation of the bone that forms the front point of the knee (patella); unequal growth of long bones, which may cause dislocations of the bones, bowing, or outward twisting of knees; and/or the protrusion of an organ through a tear in the muscle wall that surrounds it (hernia).

Individuals affected by Hajdu-Cheney syndrome may also have distinctive facial features, such as a short neck, thick eyebrows, coarse hair, and/or low set ears. Other symptoms of the head and face (craniofacial) include a small or missing frontal sinus and/or a high, narrow roof of the mouth. Affected individuals may also lose their teeth earlier than normal, have an unusually deep voice, and/or experience hearing loss.

Osteolysis, or 'bone dissolution' may be associated with neurological, vascular, metabolic, or dermatological disorders. It is important that disorders such as these be excluded when a diagnosis of Hajdu-Cheney syndrome is made.

Causes

Most cases of Hajdu-Cheney syndrome appear to be 'sporadic' in origin, and are thought to be a consequence of a new spontaneous mutation of a gene. However, multiple cases of this disorder have occurred in one family so it is possible for the disorder to be inherited as an autosomal dominant trait.

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Hajdu-Cheney syndrome affects males and females in equal numbers. This disorder is very rare. There have been approximately 50 cases reported in the medical literature. Hajdu-Cheney syndrome has been found in the United States and 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.)

Standard Therapies

Diagnosis
Diagnosis is usually made during adulthood. Painful hands may be the initial symptom, although other parts of the body may be painful as well. Affected individuals are weak and susceptible to spontaneous bone fractures. Short stature caused by compression of the vertebrae is common.

Treatment
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 frequently checked as well. To help prevent developmental delay and proper muscle and skeletal function, occupational and physical therapy may be used.

Severe destruction of bony tissue may require surgery and/or bone grafting.

Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Hajdu Cheney Syndrome Resources

Organizations:

References

TEXTBOOKS
Michels VV. Hajdu-Cheney Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:11-12.

Gorlin RJ, Cohen MM Jr, Levin LS. Eds. Syndromes of the Head and Neck. 3rd ed. Oxford University Press, London, UK; 1990:258-60.

Jones KL. Ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. W. B. Saunders Co., Philadelphia, PA; 1997:394.

JOURNAL ARTICLES
Antoniades K, Kaklamanos E, Kavadia S, et al. Hajdu-Cheney syndrome (acro-osteolysis): a case report of dental interest. Oral Surg Oral Med Oral Path Oral Radiol Endod. 2003;95:725-31.

Liljestrom MR, Narhi TO. Occlusal rehabilitation of a patient with hereditary multicentric osteolysis. J Prosthet Dent. 2003;89:114-18.

Brennan AM, Pauli RM. Hajdu-Cheney syndrome: evolution of a phenotype and clinical problems. Am J Med Genet. 2001;100:292-310.

Sicklar Z, Tanyer G, Dallar Y, et al. Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy. J Pediatr Endocrinol Metab. 2000;13:951-54.

Leidig-Bruckner G, Pfeilschifter J, Penning N, et al. Severe osteoporosis in familial Hajdu-Cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up. J Bone Miner Res. 1999;14:2036-41.

FROM THE INTERNET
McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Acroosteolysis with Osteoporosis and changes in skull and Mandible. Entry Number; 102500: Last Edit Date; 3/17/2004.

Hadju-Cheney syndrome (HCS). Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 4pp.
www.nlmnih.gov/cgi/jablonski/syndrome_cgi?index=331

Robert E. Acroosteolysis dominant type. Orphanet. 2003. 2pp.
www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=955

Vervaet V, Verstraete B, Vanneuville M, et al. Hajdu-Cheney syndrome, {Online}. 2002, Feb. 14.
www.eurorad.org/case.cfm?uid=1494

Osteolysis, Essential. HON Select. Last modified: Jan 7 2004. 2pp.
http://129.195.254.70/cgi-bin/HONselect?browse+C05.116.099.736

Hadju-Cheney syndrome: Definition(s). I-medicine. Updated:03-04-2004. various pp.
www.diseasesdatabase.com/umlsdef.asp?glngUserChoice=31486

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/04/25 00:00:00 GMT+0

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