What is Bone Dysplasia?

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.