- Written By: Tricia Ellis-Christensen
- Edited By: O. Wallace
-
Copyright Protected:
2003-2012 Conjecture Corporation
Brittle bone disease is more commonly known as osteogenesis imperfecta (OI). It is a rare, usually inherited disorder that causes bones to break easily due to the body’s low production of collagen. There are six different types of brittle bone disease. The last two types, Type V and Type VI have been recently identified, and many articles refer to only four different types. The type of brittle bone disease indicates the degree to which the condition may impact one’s life. While some people are severely affected by brittle bone disease, others are able to live a relatively normal life.
Low levels of collagen characterize Type I brittle bone disease. This type is the most frequently occurring and the least severe. Bones are likely to break easily before the onset of puberty. As well, those with Type I are prone to scoliosis, extreme curvature of the spine, and may need to wear a brace as teenagers to correct the curve.
Those with Type I brittle bone disease may also have poor muscle tone, be subject to early loss of hearing, and may show discoloration in the whites of their eyes. Joints may be loosened, causing some lack of coordination, resulting in easier breakage.
Type II brittle bone disease is extremely severe, with most affected children dying before age one. The bones are usually severely deformed and lung development is not normal. Respiratory infections are the primary cause of death in this type.
Type III, conversely, allows the body to produce enough collagen, but the collagen is of poorer quality. This type of brittle bone disease is progressive, with few symptoms shown in babies. As the child ages however, symptoms like those of Type I begin to emerge. Generally, severity increases with age creating significant deformity and disability. People with Type III may have a normal lifespan, but their life will be significantly impacted by progression of the disease.
Type IV brittle bone disease is also characterized by poor quality collagen but tends to be a milder form. Bone breakage is common before adolescence, like in Type I. In fact the disease follows an almost identical course to Type I. The differentiation is that Type I is caused by insufficient collagen, while Type IV is caused by sufficient collagen of poor quality.
Type V and Type VI are used to describe the way the bones develop, and are both basically subsets of Type IV. Type V brittle bone disease usually causes the bones to resemble meshing or webs. These imperfections result in easier breakage. In Type VI brittle bone disease, the bones appear to be scaled.
Brittle bone disease has no cure, so treatment aims toward reducing breakages and deformation. In Type I and Type IV, the bones appear to be more vulnerable to breakage during growth spurts, and breakages occur with even the simplest of injuries. Physical therapists work with children to help them build muscle tone to protect bones. Some patients undergo surgery to fuse the spine, which may help with posture and reduce curvature. However, bones are often so fragile that this surgery is quite risky.
Children with brittle bone disease often are afraid of trying new things because of the fear of painful breaks and injuries. Frequently, psychotherapy is used to address this fear. Physical therapists may also work with children to help them try out new positions in a safe environment. The condition can be difficult for all members of the family, and support groups can be of great help. There are OI Foundations in Europe, the US and Australia that can help guide families toward support and information regarding this challenging illness.
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Discuss this Article
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anon218453
Post 43 |
I'm now worried for my friend because she is constantly out of school due to broken bones. Could she have this condition? |
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anon213167
Post 42 |
Need to find an expert on OI to help diagnose it and need help fighting social services. |
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anon200857
Post 41 |
This has got to stop! After reading these posts, it helps us realise we are not alone. When our son was four weeks old, we took him to the hospital with a swollen leg and after an x ray was done we were told he had a fractured femur. Two days later, a full skeletal was carried out and revealed three rib fractures and metaphyseal fractures to his tibia and fibia. We do not know how this as happened and are still fighting to get a diagnosis of OI. He was obviously taken away from us because, as usual, social services won't believe the innocent parent. My son had an umbilical and inguinal hernia (common in children with OI), blue sclera, slight dysmorphic features, degree of hypertorlism, epicanthic folds. I have osteopenia and grey sclera, and have low vitamin d. There is extensive family history of bone related problems. Finally, my doctor has referred me to a clinical geneticist, so I'm just awaiting an appointment. I pray to god this can be sorted so we can have our most precious son home where he belongs. I have also found out this week that my mum fractured her arm in three places when she was 9 from a small fall. |
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anon179320
Post 40 |
can i have a chiropractic doctor help me if i have brittle bones? |
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anon170395
Post 38 |
My little sister took her six week old daughter to the hospital for swelling and redness in her right arm. They told her not only was her right arm broken but she also has 11 other fractures, one of them being a skull fracture. The fractures are all in different stages of healing. As far back as three weeks. Currently, my little sister is in jail (four days now). The baby has been removed from her custody. She is facing a first degree felony child injury with intent. It carries a sentence of up to 99 years in prison. She would never injure her baby! The baby has no bruising or external injuries. It would be hard to break a baby's bones and leave no bruises. When this is over and the tests prove she has this disease, we are going to organize something so this will stop happening. I will keep in touch. We have to fight back. |
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anon168309
Post 37 |
I have juvenile fibromyalgia and I have to take a daily does of vitamin D. If I stop, I start breaking my bones yet again. I have broken about 17 bones in my body in the last four years. Does that seem right to you? |
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anon164817
Post 36 |
i have just read the page and what other people have been through. In 2004, i had my son removed from my care. Social services believed that he had been hurt but could not prove it. i have just found out from my sister that brittle bones run in my family. My mother failed to tell me this. I could have saved my son, but instead i lost him. I would not wish this on any parent and help is needed for other parents. The government needs to open its eyes to this, but you know what? Honestly, i doubt they will. My thoughts are with any parent going through this because of my past and having lost my son. I'm now fighting for my daughter of 14 months to stay in my care. Let's see what happens, but i am determined social services will not get away with the prejudging they have done. It's not right. My thoughts are with you all. |
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anon163784
Post 35 |
I'm an aussie mum and have had my daughter removed from my care. my daughter had multiple broken bones. could she have this condition? |
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anon155845
Post 34 |
my 1 year old niece broke her leg yesterday and has osteogenesis imperfecta. She has broken it before also. i hope there's a cure for that. |
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anon137705
Post 33 |
I am 25 years old I have OI along with my 5 year old daughter and 27 year old brother. When I was younger having this disorder was extremely hard because of multiple broken bones. My most recent break was about a year and a half ago. That was a foot that took nearly three months to completely heal. I'm also still having problems from an ankle that I broke when I was about 13 years old which had to have a metal plate, four screws and three pins. It's not easy living with this disorder that's why I'm hoping my daughter doesn't have to go through the pain my brother and I suffered through. My mom tried to make it everything as normal as possible but after so many breaks you become uncomfortable with physical activities of any kind. I am grateful to have lived this long with this, even though some things continue and always will be a challenge. |
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anon127466
Post 30 |
Does anyone know of any cases of OI in infants that have no known genetic links to the parents? i.e. idiopathic or spontaneous OI. Child protection services are creating havoc for parents rushing to judgment with charges of child abuse. Parents need help in self defense against these government agents who are destroying their families and their lives. If anybody out there has been taken to court by Social Services with criminal charges and have been judged innocent, please post details of your cases for reference by others caught up in that abusive system. The government agents don't care. They are like a dog with a bone, focused only on what they want and on what they believe, and don't care if they send innocent parents to jail and destroy families. People need all the help they can get to fight for their freedom. |
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anon119414
Post 29 |
We found out that our daughter had OI when she was about four years old. She has type 1 OI. She was four months old when when it started. Her upper arm was broken in three places, then at the age of two she broke her other arm in three places. Again when she was three, she broke the right arm for the second time in three places by stopping her fall from a couch. Social services was at our door for two and half years investigating for child abuse then she again broke her left arm at the age of five from playing on the monkey bars at school. She would scream in pain at night because her joints hurt. When the doctors at children's finally told us her condition, it answered our concerns but gave us new fears to face and more questions on how to deal with her condition. She is now turning 10 years old. |
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anon111151
Post 28 |
I have a female friend whose bones in her feet continually break for no apparent reason. Why? |
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anon104920
Post 27 |
My one year old daughter is being tested for OI after multiple breaks in her tibia and femur. She also has blue sclera (or grey/blue discoloration of the whites in her eyes). It is difficult excepting the reality of what she will have to endure through life, but we'll make it! OI may be a disease, but it will not change the love we have for her, and while her bones may break, her spirit will be unbreakable. |
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anon97928
Post 26 |
My son is now four months old and in foster care. he had four fractured ribs. my husband and i don't know how it happened. he was in and out of the hospital since he was only five weeks old. we have a two and a half year old and no one has ever seen child abuse. Oh, by the way, our two and a half year old is in foster care too. we have been good parents and trying to find out how this could happen. could he have temporary brittle bone diseases? |
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anon86554
Post 25 |
i have oi and broke femurs, arms and ribs. I'm 25 and have a broken femur right now and they will not give social sec. disability because they say it doesn't last more than 12 months. when i do break a bone it takes 12 months just to get over the crap. I've been dealing with this my whole life. I'm just getting really depressed. can someone tell me if you can get disability with oi and how. sincerely, doyle m. please help. |
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anon85975
Post 24 |
I am 21 years old. For the past two years, I've felt like my bone structure is changing, where the right part of my body's bones are getting stronger and the left is getting a little weaker. I can feel my face structure changing a bit. When i ask others about this, they say nothing has changed, but i feel something has changed. What may be the problem here? |
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anon79996
Post 23 |
My niece's baby is six months old and had swelling in her leg and was taken to hospital. They told her the leg was broken and the other leg and ribs had old fractures. CPS stepped in to investigate and my niece is confused and in shock. |
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anon61842
Post 22 |
I am a school bus driver, and would like to find out how to handle a brittle bone child in order to help other special needs drivers in my area, s we can provide the best care for our students. Example of what I'm wanting to know. How to pick the child up in case of a bus accident? Do we pick the child up as if the child were an infant (arm under legs and arm around the back in order to support the full body)? Anyone can give the advice. |
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anon61149
Post 21 |
The love of my life was diagnosed with OI at birth. He is now in his early 30's, and is getting ready to under go his second hip replacement! It's hard on the person with the disease, just as it is hard on the people that love them. Everything can be going so well, and then in an instant, things change, and the depression sets in. It's hard! I support anyone who has the disease! Young, old, or in between. |
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anon54443
Post 20 |
it is sad.
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anon51006
Post 19 |
my son, who has just turned two, has just been tested for osteogenesis I and the results show he has it. that was passed on from his father. he didn't know he had it until my son broke his leg and after being in plaster for eight weeks he had his cast off and a week later he broke his thigh bone, just by falling over. he was in the hospital for a long three weeks and has now been in a nip spica for six weeks and still in that. He has it off in two weeks. i know a lot about osteogenesis so if you need to know anything i can help. |
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anon45802
Post 18 |
I just wanted to know a bit about brittle bones. my sister of 19 has just had a baby boy with brittle bones type 3. none of our families have had it. He's not even a week old and only god knows how many bones he has broken. Can anyone explain to me if he's going to be all right and have a normal life or does anyone know of any flims i can watch about a baby with type 3 brittle bones? please someone reply back to me. i haven't stopped crying, thinking about my sister and her baby son. |
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anon45661
Post 17 |
My friend's two month baby has a broken arm and test shown about eight other broken bones that have healed and after reading this article, we are sure it's a brittle bone disease. all other symptoms add up with it. She has taken her baby numerous times to the pediatrician, questioning all of this and nothing was done. Now with proof of the broken bones she has lost her baby to a family member until a genetic doctor calls (1-2 weeks). I just think its so sad what you have to go through when you were trying to be a good parent in the first place! The baby needs to be looked at now, not two weeks from now, and no one seems to care. They just look at the mother like she's a criminal! |
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anon43936
Post 16 |
My older cousin had a little boy in July of this year. since he was born there hasn't been something right. He won't sleep on his back and hates being cradled like a normal baby. Instead he only settles if you lie him either on your chest/tummy or have him on your shoulder with his head resting on your shoulder.
A few weeks ago a friends child accidentually hit him with a toy and he was taken to hospital as his nose was bleeding but they said he was fine. A few days later he was rushed to hospital as he was bringing up blood. They did X rays and CT scans but nothing came back. Eventually he settled and he came home. Still he had problems with settling, winding and feeding. In the last few weeks he has been bruising when you handle him, even when he just sits in your arms/lap for a feed. He went for an X-ray this week and the doctors have said he has broken his ribs in numerous places, but all he has done since he was born is sleep and be fed - is it possible he has brittle bone disease? |
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anon43241
Post 15 |
I have a friend who has baby who is five weeks old. My friend just found out that he has broken both his arms and some ribs and the parents do not know why and can't work out how it happened. can this be a case of brittle bone disease? |
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anon39755
Post 14 |
My cousin had a baby girl yesterday morning and the doctors had been telling her all along that something wasn't right. It turns out that the baby (Grace) has a form of dwarfism and has been diagnosed with type 3 brittle bone disease. They said she may not make it. I'm just trying to find out any information I can about this disease. |
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anon34874
Post 13 |
Is brittlebone disease ever associated with extreme dental issues? My son has tremendous issues with his teeth ....cavities, fillings that fall out, chips, etc. He also has frequent broken bones and injuries... His dentist has indicated that his oral hygiene is actually quite good, so he thinks there may be more to this condition. |
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anon29661
Post 12 |
I know there are eight different types of OI because I have been researching about OI since my infant son passed away from type II. |
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akpete47
Post 11 |
Ive just been told that my father has brittle bone disease. I don't know what form it is? all i know is that he has just been diagnosed with it and he is 60. ( i don't really get on with my father-hence why i don't know much). I have just had a little nipper-10months ago, and was wondering should i get him tested for it? |
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anon25529
Post 10 |
how many people does brittle bone disease affect? |
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anon24539
Post 8 |
how do u get brittle bones? |
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anon18863
Post 7 |
Can this disease inflict depression? I have this disease and i have depression i'm not sure if this may be the cause |
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habura
Post 6 |
Anon14642 - What's the difference between osteoporosis and brittle bone disease? Both are diseases that have to do with weak bones. Osteoporosis is more common than brittle bone disease and can be developed later in life whereas OI is less common and is something you have since birth. Osteoporosis is a general term that isn't associated with a specific cause for bone loss, unlike OI. Also, most people with OI also have osteoporosis, but the reverse is not true.
Anon16283 - OI can be treated; it can also be fatal. It all depends on the symptoms. Mild and moderate symptoms won't affect life expectancy, but severe symptoms can shorten the patient's life.
Another point. There are two types of OI that are recessively inherited -- Type VII and VIII. |
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anon16283
Post 5 |
Do people with Brittle Bone Disease die? Or is it treatable? |
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anon14642
Post 4 |
Is brittle bone and osteoporosis connected in any way? |
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anon10823
Post 3 |
Curious if this gene can be passed on and if so is there a way to reduce the risk of carrying it on? Thank you.
Editor's reply: brittle bone disease is an inherited genetic disease-up to 90% of cases are inherited through a dominant gene, which means that one parent has the gene. the others are due to a recessive gene, meaning both parents have the gene. a parent who has the dominant form of the disease has a 50% chance of passing it on to their children. for parents with the recessive form of the disease, they have a 100% chance of their children at least being carriers of the gene. check out our article what is osteogeneis imperfecta? for more info on the disease.
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anon9574
Post 2 |
Deevanb - There are only 20,000 to 50,000 people in the U.S. including me with brittle bone disease. |
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deevanb
Post 1 |
Brittle Bone disease affects how many people in the United States each year? |
