Osteogenesis imperfecta

Synonyms in the broadest sense

Glass bone disease, congenital fragility of bones, fragilitas osseum

English: brittle bones, hereditary fragility of bones


In the Osteogenesis imperfecta (Glass bone disease) it is a congenital disorder of the collagen balance.
Collagen is a structure of connective tissue.
The bone become abnormally brittle. The gene mutation affects not only the bones, but also tendons, ligaments, teeth and the Conjunctiva of Eye, because here too collagen occurs everywhere.


The Vitreous bone disease is a congenital disorder of the collagen balance. The disease is inherited and causes abnormal bone fragility. Above all, a substance inside the bones is affected, which causes the bone to lose its stability significantly.
The feature are next to Broken bones (frequent bone fractures, med. fracture), also malformations of the bones and short stature. Mentally, however, the patients are inconspicuous.
The frequency of broken bones increases according to the puberty but can increase again with age. The diagnosis the vitreous bone disease is mostly based on X-rays on which the greatly reduced bone density can be clearly seen.
The therapy consists in increasing the Bone density through the gift of Bisphosphonates. The bones are also splinted internally and externally. From the outside, for example, the legs are embedded in a rail. An intramedullary nail, which is inserted into the bone and can grow with it, splinters the bone from the inside.

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root cause

As the cause of Osteogenesis imperfecta become different Gene mutations supposed.
There are over 200 gene mutations in type I collagen. These are on chromosome 7 or 17. If this gene is defective, the production of collagen does not function properly.
In type I of vitreous bone disease (see below) normal colleagues, but too little of it is produced. With all other types, the collagen produced is defective and cannot function properly in the body. Some of the gene mutations also occur spontaneously and are therefore new.
The disease osteogenesis imperfecta can be inherited as an autosomal recessive as well as an autosomal dominant trait. This means that the probability of passing an osteogenesis imperfecta on to the next generation essentially depends on the individual type.

If there is now an osteogenesis imperfecta, the bone cannot reproduce properly, i.e. form anew, and thus cannot stabilize. Bones contain a structure that can be imagined as fine trabeculae (similar to a sponge) that are cross-linked with each other. They give the bone tremendous stability. It is precisely these structures that can be used in Osteogenesis imperfecta narrow and sparse.

Symptoms of osteogenesis imperfecta / glass bones

In the Vitreous bone disease (Osteogenesis imperfecta) there are forms of different severity. For light forms, the Glass bones - Illness only emerges over the years - for example, because a child keeps breaking bones. Heaviest forms of glass bones / Osteogenesis imperfecta can render a newborn unable to live. The newborn is born with multiple fractures; even stillbirths can occur sporadically. Overall, the glass bone disease is a rather heterogeneous clinical picture (this means that many different symptoms can come together) represent.

So it can lead to many different symptoms of the Glass bones - illness come without being able to say that there is a certain characteristic that occurs in all patients.

Typical are:

  1. Fractures, including of the skull
  2. Deformities
  3. Short stature
  4. Hearing loss
  5. easy vulnerability
  6. Overstretchability of the joints and
  7. bad teeth.

The Fractures (Broken bones) can be done with even the slightest movements, such as turning over in bed. This also depends on the severity of the severity. It is quite possible that children are not even able to stand or even learn to walk because of this increased bone fragility. Typically the Long bones (Arm and leg bones) and the Pelvic bones affected by the disease. Due to the reduced stability of the bone They can also be bent due to the high muscle tension.

It can also internal organs be affected as these are also made of collagen. These organs then lose more and more of their functionality over time.

The bluish shimmering eyes are noticeable in patients with glass bones: Due to the lack of collagen (also in the conjunctiva of the eye), the ones below shimmer Choroid bluish through.

It is important, however, that the patient no mental weaknesses (med. also called retardation) exhibit.


  • Type I.
    This is the mildest form of osteogensis imperfecta and is often not discovered immediately, but only when the children are a little older and often break something (for example when learning to walk). The physique is mostly normal and the bone deformations are also minor. Often times, patients are after puberty hard of hearing. Type I osteogenesis imperfecta is most common in the population.
  • Type II
    This is the most severe form of osteogenesis with previously barely or not at all viable patients, often during or shortly after birth However, cases are now also described in which children with type II are able to survive.
  • Type III
    The patients with type III of the disease show a greatly increased bone fragility and a growth retardation. Arms, legs and spine are badly deformed. Patients often need a wheelchair soon.
  • Type IV
    Affected people are often short, but less severely affected than patients with type III. However, there can be very different degrees of severity, bone fragility and bone deformities.


The broken bones can usually be observed in the affected children until puberty. However, the greatest frequency of fractures appears to be in the first growth spurt at around 5 - 8 years of age. After puberty, the fractures stop.
The disease can express itself differently for each person affected. Osteogenesis imperfecta (glass bone disease) is a very heterogeneous and individual disease. There are many people who are only slightly affected and hardly show any symptoms. An affected person may have some of the above symptoms, but by no means all of them.


The diagnosis is made using an x-ray. Since "normal", ie solid bone appears white on the X-ray, and the brittle bone in osteogenesis imperfecta is less dense and therefore appears less white, the disease can be diagnosed easily. Most of the time, the long bones and the pelvis are deformed.

Therapy of osteogenesis imperfecta

A therapyto the disease Osteogenesis imperfecta it is impossible to heal. Medicines have so far not shown any trend-setting success in reducing the disease. Become the patient Bisphosphonates (especially Pamidronate) administered to strengthen the bone substance and thus a more intense one physiotherapy care to enable.
The pertinent effect of bisphosphonates in osteogenesis imperfecta has been very well researched and proven, as they are also used in the therapy of osteoporosis are used. This therapy also relieves bone pain and thus strengthens the children's motivation for physiotherapy. Like any drug, bisphosphonates have side effects. It is especially important to note that bisphosphonates must be taken before breakfast.

Since these drugs attack the mucous membrane, patients are not allowed to lie down for half an hour after ingestion to avoid damage to the mucous membrane esophagus to be avoided by tiling back.
In addition to those used externally Orthoses for osteogenesis imperfecta, which prevent fractures and prevent deformations, there is also the option of surgical therapy for osteogenesis imperfecta. Nails are inserted into the bones to protect the bone to stabilize and prevent broken bones. The difficulty here is that the growth plate should not be injured in children, as otherwise the growth of the bones is disturbed.
Especially for this there is the so-called Bailey-Dubow-Nagel, which is introduced beyond the growth plate. These nails consist of two parts and are extendable (comparable to a curtain rod) so that they practically grow with you. They not only prevent fractures, but also keep the bone straight. A great advantage of these nails is that they do not have to be removed and so stay in the bone for a lifetime.


The actual disease cannot be avoided, only the broken bones can be tried to prevent. Orthoses and splints can be used for this. Orthoses are bone splints made of plastic in which the leg, for example, is embedded. The word probably originated from the words "orthopedic" and "prosthesis".
Orthoses serve to externally stabilize bones and joints - the corset is also one of the orthoses. The variety of orthoses ranges from simple leg or foot braces to specially made full-body shells for affected children, which are only used in extreme cases.


With puberty, the fractures usually come to a standstill or at least occur less frequently. The later the tendency to fracture sets in at all, the more favorable the prognosis. If the fractures do not begin until the age of 10, for example, puberty is not far away and thus the end of the abnormal ones Fragility of bones to be foreseen. Many of the deformities and fractures affect locomotion, i.e. running and walking, so that many patients will later only be able to work in a sedentary occupation. However, with age, the fractures can start again.