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About Rare Bone Diseases

A rare or "orphan" disease affects fewer than 200,000 people, according to the National Organization for Rare Diseases (NORD) of the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans. One in every 10 individuals in this country has received a diagnosis of a rare disease.

The Rare Bone Disease Patient Network is a coalition of patient groups concerned specifically with rare bone disorders.

About Fibrous Dysplasia

Fibrous dysplasia (FD) is an uncommon bone disease that can affect any bone in the body. The severity of the disease covers a wide spectrum. It can affect a single bone and go unnoticed for years, or it can affect virtually every bone, start very early in life, and result in significant physical impairment. It is caused by defective gene in the cells that form bone. The cause of the gene defect is unknown, but the defect is neither inherited from the person's parents, nor passed on to the person's children. When the long bones (the bones of the legs and arms) or flat bones (ribs and pelvis) are affected, the bones weaken, may bow, are often painful, and will frequently fracture. Affected bones in the skull often expand, may cause disfigurement and, again, are often painful. At present there are no approved medical therapies. Surgery is sometimes recommended for severe complications.

Fibrous Dysplasia Foundation - http://fibrousdysplasia.org/
The Paget Foundation for Paget's Disease of Bone and Related Disorders - http://www.paget.org

About Fibrodysplasia Ossificans Progressiva (FOP)

FOP is a rare genetic disorder that causes bone to form in muscles, tendons, ligaments, and other connective tissues. Bridges of extra bone develop across the joints, progressively restricting movement.  In FOP, the body produces not only too much bone, but an extra skeleton that encases the body, locking the person into a bony prison.

International FOP Association - http://www.ifopa.org

About Lymphangiomatosis & Gorham's disease. 

What is Lymphangiomatosis?    Lymphangiomatosis has been characterized as a rare pathogenic condition in which multiple lymphangiomas appear in various body constituents and can involve the skeletal system, connective tissue, and visceral organs which can obstruct, compress, or destroy vital structures. Although considered benign and not metastatic, lymphangiomatosis can be persistently invasive, making treatment challenging and problematic.  There is no standard definition describing this disease that has been agreed to by the medical/scientific community  in part because the disease is quite rare, in part because the lymphatic system is understudied - thus poorly understood. Astonishing, but regrettably true.  The cause, or etiology of lymphangiomatosis is unknown. It has been presumed to be caused by a multi-focal malformation of the lymphatic system - alone, or combined with malformation of the vascular system. Lymphangiomatosis can occur at any age, but the incidence is highest in infants and young children  often with poor prognosis.  http://lgdalliance.org/aboutlymph.asp

What is Gorham's disease?   Gorham's  disease is a rare musculoskeletal condition in which spontaneous, progressive resorption of the bone occurs. It is known variously as massive osteolysis, disappearing bone, or vanishing bone disease.  Although described long ago, this rare and potentially catastrophic disease remains understudied, thus, poorly understood. It is thought to be closely related to, or even a severe form of, lymphangiomatosis.  It may be characterized by a proliferation of thin-walled vascular capillaries or lymphatic vessels that starts within the bone. As these vessels proliferate, they aggressively invade the adjacent bone leading to resorption and replacement of angiomatous tissue. The cause remains unknown and it is not usually recognized by clinicians until a fracture occurs, with subsequent improper bone healing. Gorham's disease is extremely rare and may occur at any age.  It is most often recognized in children and young adults, without gender, race predilection, or inheritance pattern. Because it is so rare, and commonly misdiagnosed, it is not known exactly how many people are affected by this disease.  http://lgdalliance.org/aboutgorham.asp

All interventions (pharmacological and surgical) for either lymphangiomatosis or Gorhams disease are all still considered to be experimental since there have been no studies done to examine the effectiveness of anything used to date. To summarize, no single treatment modality has been reported to be proven effective for arresting this disease and there are no known treatments that prevent or control the disease itself.

Lymphangiomatosis & Gorham's Disease Alliance (LGD Alliance):  http://www.lgdalliance.org   email: support@lgdalliance.org

About Melorheostosis

With an estimated incidence of 1:1,000,000 - melorheostosis is a rare and progressive disorder characterized by thickening of the bone, also affecting the joints and overlying soft tissue and skin. Melorheotosis can result in severe functional limitation, extensive pain, soft tissue contractures (malformed and/or immobilized joints, tendons, ligaments), and limb, hand and/or foot deformity.  The age of diagnosis is typically based on severity of onset and symptoms.

Melorheostosis Association - http://www.melorheostosis.org

About Multiple Hereditary Exostoses (MHE)
Also referred to as Hereditary Multiple Exostoses (HME)
Multiple Osteochondromas (MO) is the preferred term used by the World Health Organization (WHO)


MHE/MO/HME is a genetic bone disorder in which benign cartilage-capped bone tumors grow outward from the metaphyses of long bones, growth plates or from the surface of flat bones throughout the body. The severity of this disease varies. Some patients may have as few as two tumors, but most patients develop many more and the numbers of tumors can run into the hundreds.

These Exostoses/Osteochondromas can cause numerous problems, including: compression of peripheral nerves or blood vessels; irritation of tendons and muscles resulting in pain and loss of motion; skeletal deformity; short stature; limb length discrepancy; chronic pain and fatigue; mobility issues; early onset arthritis; and an increased risk of developing malignant tumor transformation (chondro-sarcoma) reported risk of 2%-5% over life time.

It is not uncommon for MHE/MO/HME patients to undergo numerous surgical procedures throughout their lives to remove painful or deforming Exostoses/Osteochondromas and or to correct limb length discrepancies and improve range of motion. Surgery, physical therapy and pain management are currently the only options available to MHE/MO/HME patients, but their success varies from patient to patient and many struggle with chronic pain, fatigue and mobility problems throughout their lives.  

MHE/MO/HME is a genetic autosomal dominant hereditary disorder. This means that a patient with MHE/MO/MHE has a 50% chance of transmitting this disorder to his/her children.  There are two known genes that cause this disease EXT1 located on chromosome 8q23-q24 and EXT2 located on chromosome 11p11-p12. Approximately 60 to 70 % are located EXT1 gene and 20 to 30% are located EXT2 mutation. In 10 to 20% of the patients, no mutation is found. 10% -20% of individuals with MHE/MO/HME have the condition as a result of a spontaneous mutation, thus they are the first person in their family to be affected.


MHE Research Foundation - www.MHEResearchFoundation.org

About Osteogenesis Imperfecta (OI) - Brittle Bone Disease

Osteogenesis Imperfecta (OI)-- commonly known as the "brittle bone" disorder-- is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A person with OI may break a rib while coughing, or a leg by rolling over in their sleep. OI has been documented in all ethnic groups, and affects a person throughout their lifetime.

Osteogenesis Imperfecta Foundation - http://www.oif.org

About rare diseases covered by The Paget Foundation for Paget's Disease of Bone and Related Disorders

  • About Paget's Disease of Bone
    Paget's disease causes bones to grow too large and weak. You can have Paget's disease in any bones in your body, but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones, but it does not affect the entire skeleton. Bones with Paget's disease may break more easily, and the disease can lead to other health problems.
  • About Primary Hyperparathyroidism
    Primary hyperparathyroidism is a hormonal problem which occurs when one or more of the parathyroid glands produces too much parathyroid hormone. When this ocurs, blood calcium is elevated and bones may lose calcium. At present, there is no approved medical therapy for primary hyperparathyroidism. Surgical removal of the affected gland(s) is a cure for most patients.

  • About Fibrous Dysplasia (see above)
  • About Osteopetrosis
    Osteopetrosis is a condition present at birth (congenital) which the bones are overly dense. This results from an imbalance between the formation of bone and the breakdown of the bone. There are three types of osteopetrosis of varying severity. Symptoms can include fractures, frequent infections, blindness, deafness, and strokes.

The Paget Foundation for Paget's Disease of Bone and Related Disorders - http://www.paget.org

About XLH

There are several names for a relatively rare disease that affects about 1 in every 20,000 people. It is generally referred to by physicians by its acronym, XLH. XLH is a genetric disorder that is passed from one generation to the next, although a spontaneous mutation may occur in a family with no previous family history of XHL. It is carried on the X-chromosome; hence the "X-linked" name.  The rest of the name identifies the primary and key sign of XLH, which is a low level of phosphorus in the blood; this is called hypophosphatemia. Another sign, which doesn't always occur or can be mild to severe when it does, is bone disease called rickets where the legs can become knock-kneed or bowed.  There are also other genetic bone diseases causing hypophosphatemia which are autosomal - not X-Linked inheritance. While different in subtle ways, these other diseases and XLH can have effects that are very similar.

XLH Network - http://www.xlhnetwork.org   



About Rare Bone Diseases

For Healthcare Professionals and Researchers

In the News




Soft Bones Hypophosphatasia Research Grant - Application Deadline August 15, 2012

2012 Rare Bone Disease Research Summit

Rare Disease Day

1st Advances in Rare Bone Diseases Scientific Conference

1st Advances Conference Report


Inaugural Meeting Report


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