Top
10
Doctor insights on: Brittle Bone Disease Williams Syndrome

Share
1

1
What is the medical name for brittle bone disease?

What is the medical name for brittle bone disease?

Osteoporosis: In the elderly (mainly) we refer to loss of bone structure as osteoporosis. Untreated hypothyroidism can lead to bad bone issues. Vitamin d deficiency and calcium defiency can lead to a problem called rickets which is associated with weakened bones, rare in the usa, but common in some developing countries. Other disorders can be listed as well. ...Read more

Dr. Linda DiMeglio
70 doctors shared insights

Brittle Bone Disease (Definition)

Osteogenesis imperfecta is a condition causing extremely fragile bones. Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on ...Read more


2

2
Can brittle bone disease be fatal?

Can brittle bone disease be fatal?

Yes it could be: Some new born die during delivery because they have so many fractures during delivery. (osteogenesis imperfecta). ...Read more

See 1 more doctor answer
3

3
Is brittle bone disease genetic?

Usually: Osteogenesis imperfecta is a disorder of brittle bones. There is an abnormality in collagen 1 function, and so you are not able to make bones or other connective tissue structures correctly. This is why people often have "blue sclera" because the collagen is abnormal. Most cases are genetic, but a new mutation (not inherited) can be seen (about 35%). ...Read more

See 1 more doctor answer
5

5
Brittle bone disease ..Advice any treatment?

Brittle bone disease ..Advice any treatment?

Symptom relief: There is no cure since it is a genetic disease, but regular weight-bearing exercise to prevent bone loss, a diet rich in calcium and vitamin d, and sometimes even vitamin supplements will help. Bisphosphonates are a group of drungs that can increase bone density, but they have side effects. ...Read more

6

6
What is the treatment for brittle bone disease?

Symtomtic treatment: We have to treat people according the fractures they have. ...Read more

See 1 more doctor answer
8

8
How is one tested for brittle bone disease if pregnant?

Generally avoided: Testing for bone problems such as osteoporosis is generally not done in pregnancy because testing bone density involves radiation. Instead, we would recommend getting adequate calcium in your diet and exercise. ...Read more

10

10
Getting tested for brittle bone disease?

Should be done: Osteogenesis imperfecta is an abnormality in collagen 1 function, and so you are not able to make bones or other connective tissue structures correctly. This is why people often have "blue sclera" because the collagen is abnormal. Most cases are genetic, but a new mutation (not inherited) can be seen (about 35%). There are 8 major types, and these can be tested for. ...Read more

Osteogenesis Imperfecta (Definition)

Osteogenesis imperfecta is a condition causing extremely fragile bones. Osteogenesis imperfecta (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on ...Read more


Dr. Fred McCurdy
63 doctors shared insights

Williams Syndrome (Definition)

Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...Read more