Bruck Syndrome

Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures.

NIH National Library of Medicine: https://pubmed.ncbi.nlm.nih.gov/25931047/ 

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Hypophosphatasia

Hypophosphatasia is an inherited (genetic), ultra-rare, metabolic (chemical) bone disease of broad-ranging severity that causes life-threatening disease in approximately one per 100,000 live births. People with the condition have low levels of the enzyme alkaline phosphatase, which impairs the mineralization of bones. Normal mineralization is essential for hard and strong bones. Without it, bones become weak and soften and teeth may fall out prematurely. Depending on the severity of the skeletal disease, symptoms can include deformity of the limbs and chest, pneumonia, recurrent fractures, premature tooth loss and pain.

Soft Bones: www.softbones.org 

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Ehlers-Danlos Syndrome (EDS)

The Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue disorders. The conditions are caused by genetic changes that affect connective tissue. Each type of EDS has its own set of features with distinct diagnostic criteria. Some features are seen across all types of EDS, including joint hypermobility, skin hyperextensibility, and tissue fragility. A subset of individuals have striking joint mobility and bone fragility and are described as having an EDS OI overlap phenotype.

Ehlers-Danlos National Foundation: www.ehlers-danlos.com

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Fibrous dysplasia (FD) is a rare condition that arises from abnormal bone cells that produce weak, fibrous bones that are potentially prone to fractures or bending. The type and severity of fibrous dysplasia complications depend on where in the skeleton it is located and how many abnormal bone cells are present in that location. Although Fibrous dysplasia is a genetic disorder, it is not hereditary because all the mutations occur in embryos after fertilization. Some people only have affected bones, in which case it might be called FD. When bones and other tissues are affected, it is called McCune-Albright Syndrome (MAS). Both FD and MAS are caused by the exact same gene mutation.

FD/MAS Alliance: www.fdmasalliance.org

Idiopathic Juvenile Osteoporosis

Osteoporosis literally means “porous bone.” This disease is characterized by too little bone formation, excessive bone loss, or a combination of both. Idiopathic juvenile osteoporosis (IJO) is a primary condition with no known cause. It is diagnosed after the doctor has excluded other causes of juvenile osteoporosis, including primary diseases or medical therapies known to cause bone loss. National Institute of Arthritis and Musculoskeletal and Skin Diseases: https://www.bones.nih.gov/health-info/bone/bone-health/juvenile/juvenile-osteoporosis

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Osteopetrosis

Osteopetrosis is a rare congenital bone disorder where bones are abnormally dense and brittle. This results from an imbalance between the formation of bone and the breakdown of the bone. 

The OsteoPETrosis Society www.osteopetrosis.org

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Osteoporosis-Pseudoglioma

Syndrome (OPPG)

Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. NIH National Library of Medicine: https://medlineplus.gov/genetics/condition/osteoporosis-pseudoglioma-syndrome/

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Rickets

Rickets is a disorder caused by a lack of vitamin D, calcium, or phosphate. It leads to softening and weakening of the bones.

NIH National Library of Medicine: https://medlineplus.gov/ency/article/000344.htm

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X-Linked Hypophosphatemia (XLH)

X-Linked Hypophosphatemia (XLH) is a rare genetic disorder that affects about one in 20,000 people. The key characteristic of XLH is a low level of phosphorus in the blood, called Hypophosphatemia. When a person is affected by XLH, their kidneys do not properly handle Vitamin D and phosphorus. This causes a variety of symptoms and disorders that usually affect their bones and teeth.

XLH Network: www.xlhnetwork.org

Additional Considerations

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Osteopenia – premature infants

Osteopenia is a decrease in the amount of calcium and phosphorus in the bone. This can cause bones to be weak and brittle. It increases the risk for broken bones.

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Malabsorption Syndromes

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If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include: Celiac disease, lactose intolerance, short bowel syndrome, Whipple disease (a rare bacterial infection), genetic diseases, or certain medicines. National Library of Medicine: https://medlineplus.gov/malabsorptionsyndromes.html

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Osteoporosis

If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include: Celiac disease, lactose intolerance, short bowel syndrome, Whipple disease (a rare bacterial infection), genetic diseases, or certain medicines. National Library of Medicine:

https://medlineplus.gov/malabsorptionsyndromes.html

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