What is Bone Dysplasia?

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  • Written By: C. Martin
  • Edited By: Andrew Jones
  • Last Modified Date: 07 September 2019
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In medicine, bone dysplasia is a condition characterized by abnormal bone growth, more frequently occurring in children. There are a great many varieties of bone dysplasia, many of which are caused by genetic disorders, or by disturbances in the levels of growth hormones in the blood. They are also often referred to as skeletal dysplasias. Sometimes these growth disorders may lead to other problems such as limb deformities that make movement difficult, and spinal deformities, such as scoliosis.

Two of the most common bone dysplasia conditions affecting the skeletal system of children are achondroplasia and hypochondroplasia. Achondroplasia is the most common form of what is commonly referred to as dwarfism. This bone disorder results from a genetic mutation in a gene that controls bone growth. It is recognized by the symptoms of very short limbs and an uncommon facial structure with a long forehead and a reduced nose. The length of the spine in individuals suffering from achondroplasia is usually normal, and, aside from the deformities to the skeletal system, these individuals often experience average health.

Hypochondroplasia is a very similar condition, but the deformation of the skeleton is less severe. The limbs are mainly affected, and the facial structure appears much closer to normal than is the case in achondroplasia. Although both syndromes are due to a genetic mutation, they appear to be unrelated, and a completely different gene is responsible for achondroplasia than the one for hypochondroplasia.


Where bone dysplasia is the result of a genetic mutation, as is the case for most patients, the treatment available is limited in scope. The administration of hormonal drugs to stimulate growth may have a beneficial effect, if this is done when the patient is a child. Another treatment that is sometimes performed is surgical lengthening of the limbs. This is a complex and lengthy procedure that involves the use of bone grafts and metal plates. It can lead to infection and various complications, and multiple operations are required.

For many patients, treatment of bone dysplasia is limited to managing the medical complications and the lifestyle difficulties that result from the disorder. Complications may include back pain, numbness in the limbs, joint pains, and sometimes hearing loss due to the effect of the bone dysplasia on the skull and the bony structures of the ear. As is the case with all medical conditions, specific advice from a medical professional is necessary to determining one's own condition and the potential treatments available.


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Post 4

@simrin-- Those kinds of bone dysplasia are often lethal aren't they? I read that about five percent of dysplasia cases in fetuses end with death during birth. It's because the bone growth is too small to allow lungs to fully develop and the infant dies immediately after birth.

I think your friend's daughter must not have had a really bad case of dysplasia. Otherwise, it would have been hard for her to get through infancy.

I agree with you about early diagnosis. The other thing is that diagnosis during the fetal stage is always incomplete because you will not know exactly which type of dysplasia you're dealing with until the child is born and older.

There are hundreds of different types. Genetic testing can help with that but I don't think doctors take amniotic fluid for genetic testing very often. Because that can put the life of the child at risk too.

Post 3

@anamur-- Actually, it can be diagnosed even earlier now during the fetus stage.

A friend of mine's daughter has skeletal dysplasia and she found out when she was still pregnant. What doctors do is they regularly measure the fetus to see if it is growing and developing normally.

My friend said that the diagnosis came when the measurements for her daughter's thigh bone and arm bone while she was still in the womb were found to be shorter than normal. The baby was diagnosed with growth retardation first and then they did genetic testing to confirm that it was dysplasia and it was.

Early diagnosis is always good because you can prepare yourself and seek treatments that

will improve the child's quality of life early on. But it's also sad because there isn't much to be done. It's such a devastation for a mother to learn that her baby is not well and that he or she will have to live with this condition for the rest of his or her life.
Post 2

@anon163470-- As far as I know bone dysplasia will take several years after birth for clear signs and symptoms of the condition. But it can be diagnosed much earlier, usually within ages one and two. In some cases, doctors might notice unusual signs right after birth during the newborn examination.

Signs and symptoms of dysplastic bone structures can differ depending on the type of dysplasia but for dwarfism for example, I know that abnormalities in the feet is usually how dwarfism shows itself in toddlers. Also the appearance of swollen hands and feet, excessive skin in parts of the body are signs that can be seen with newborns.

Pediatricians look out for these kinds of abnormalities at regular checkups, so ideally it should be diagnosed at an early age before the symptoms come through all too clearly.

Post 1

when does bone dysplasia occur? i mean at what age?

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