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Doctor insights on: Brittle Bone Disease Williams Syndrome

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Is brittle bone disease genetic?

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

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Dr. John Landi
99 doctors shared insights

Osteogenesis Imperfecta (Definition)

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


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Is osteogenesis imperfecta a bone disease and disorder?

Is osteogenesis imperfecta a bone disease and disorder?

Yes: Osteogenesis imperfecta, or oi for short, is caused by genetic mutations of certain collagen genes. There are a number of types, and the severity can range from lethal shortly after birth to quite mild. Bone fractures, sometimes dental problems, and sometimes hearing loss can occur. The oi foundation is a great source of information: http://www.Oif.Org/site/pageserver. ...Read more

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What is brittle bone disease called?

OI: Osteogenesis imperfecta. There are several types of the disease. Type 1 is mild disease. Type iii is the one in which people are most affected. Hope this helps. ...Read more

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Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...Read more

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Is sturge weber syndrome is progressive disease?

Is sturge weber syndrome is progressive disease?

Not progressive: But will always need follow up eye exams to monitor for possible glaucoma. ...Read more

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Is charcot marie tooth disease associated with diabetes?

Is charcot marie tooth disease associated with diabetes?

NO NOT DIRECTLY: Charcot marie tooth disease basically can be inherited neurological disease. Diabetes is a metabolic disorder. ...Read more

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Is osteogenesis imperfecta a chronic disease?

Is osteogenesis imperfecta a chronic disease?

Yes: It exists from conception until death, so it qualifies as chronic.Some are symptomatic at birth and some not until much older. ...Read more

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Is Marfan syndrome a sex-linked disease?

Is Marfan syndrome a sex-linked disease?

No: Marfan syndrome is an autosomal dominant connective tissue disorder caused by abnormal microfibrillin protein. If a parent is affected by the disorder, their offspring has a 50/50 chance of inheriting it, regardless of whether the baby is a boy or a girl. ...Read more

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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

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Who was the person that discovered osteogenesis imperfecta (oi) or brittle bone disorder?

Read my answer: So, oi has been noted in skeletons that date back to antiquity (egypt, specifically). The disease is also known as lobstein disease. There were actually a few lobsteins, german-french surgeons and anatomists in the late 18th and 19th centuries. The classification for oi is attributed to david sillence, an australian geneticist and an authority on the disease. ...Read more

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Which of the following are auto-immune conditions? Hypothyroidism Coeliac Disease Endometriosis Chronic Fatigue Syndrome (CFS)

Which of the following are auto-immune conditions? Hypothyroidism Coeliac Disease Endometriosis Chronic Fatigue Syndrome (CFS)

Comments: We are learning that the immune system is playing a huge role in many known diseases, and Celiac is certainly auto-immune mediated, and several thyroid disorders are too. Chronic fatigue is often a manifestation of other disorders, and is not considered a separate disease per se. Am unaware of current concepts regarding endometriosis. Should ask OB-GYN specialist. ...Read more

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Is treacher collins syndrome a mitochondrial disorder?

Is treacher collins syndrome a mitochondrial disorder?

No: Treacher collins syndrome is an autosomal dominant mutation of a gene that codes for a nucleolar phosphoprotein.Researchers cite chromasome 5 as the predominant location for this defect.About 60% of cases are thought to represent new mutations. ...Read more

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Is patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read more

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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

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Is Marfan syndrome preventable?

Is Marfan syndrome preventable?

Sometimes: Marfan syndrome is preventable when the adults who know they have marfan syndrome thoughtfully choose not to have biological children (50% of their children would have the disease). Some cases are not preventable, such as the 20-30% of marfan syndrome persons who have the disease from a new mutation (neither parent had a mutation). ...Read more

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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


Bone (Definition)

Bone is a living growing tissue made mostly of collagen (protein that provides soft framework) & the mineral calcium phosphate that adds strength & hardens the framework. Two types of bone are found in the body; cortical (dense compact outer layer) & trabecular (makes up inner layer, ...Read more