Hajdu Cheney Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Hajdu Cheney Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


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

Disorder Subdivisions

  • None

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.


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.


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.

Standard Therapies


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.


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:




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.


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.


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.


Robert E. Acroosteolysis dominant type. Orphanet. 2003. 2pp.


Vervaet V, Verstraete B, Vanneuville M, et al. Hajdu-Cheney syndrome, {Online}. 2002, Feb. 14.


Osteolysis, Essential. HON Select. Last modified: Jan 7 2004. 2pp.

Hadju-Cheney syndrome: Definition(s). I-medicine. Updated:03-04-2004. various pp.



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Hajdu-Cheney Support Group

1301 Amelia Avenue

Portsmouth, VA 23707

Tel: (757)465-8169

Email: hcsupport@cox.net

Internet: http://www.hajdu-cheney.com

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.