Bone Dysplasia

Bone Dysplasia

What is Bone Dysplasia

There are many conditions that can affect the growth of an infant. Bone dysplasia is the general name given to conditions where bone and/or cartilage abnormalities lead to changes in the shape and size of the limbs, head and/or trunk. The resulting abnormalities lead to disproportionate short stature (DSS), also known as dwarfism.

There are hundreds of different bone disorders which affect growth, they are mostly rare and are also known as skeletal dysplasia.

Achondroplasia is the most common type of bone dysplasia and affects around 1 in 26,000 new-borns.

Hypochondroplasia is a similar syndrome with less noticeable characteristics and short stature and affects 1 in 10,000 to 1 in 40,000 births.

Other bone dysplasia include:

  • Diastrophic Dysplasia (DTD)
  • Conradi-Hunermann syndrome
  • Pseudoachondroplasia
  • Spondylo-epiphyseal dysplasia (SED)
  • Pseudoachondroplasia

 

Why does it occur?

Most bone dysplasia are caused by a genetic mutation that affects how some of the bones develop and in most cases the mutation happens without any prior family history.

Achondroplasia is caused by a single mutation to the FGFR3 gene, which is a protein receptor that regulates bone growth. The mutation causes the receptor to be overly active which leads to irregular growth.

Hypochondroplasia, like Achondroplasia, is caused by a mutation to the FGFR3 gene but with seemingly less severe changes to bone growth.

How is Bone Dysplasia diagnosed?

Due to the distinctive symptoms, diagnosis of bone dysplasia is generally gained at birth. This can be confirmed by x-rays, MRI scans and other diagnostic imaging techniques.

Signs & Symptoms

Physical characteristics of achondroplasia include short upper arms and thighs, a normal length back and larger head, with a depressed nasal bridge small nose and large forehead. In later life it can lead to spinal problems and, sometimes, hearing difficulties. There may also be joint pains and the possibility of other symptoms.

 

Treatment & Support

Orthopaedic and spinal issues should be constantly monitored to help identify concerns. Treatments involving guided growth can be used to help with limb and hip alignment. Other treatments are available such as limb lengthening and growth hormone but these are not needed for a healthy life and remain the personal choice of the individual.

Please consider calling our helpline for support and advice, we can also help put you in touch with other families with the same condition. We also have members of our Facebook Group who may be able to help you.

Personal Stories

We hope to add personal experiences and stories from people affected by Bone Dysplasia soon.

Further Reading/Downloads

Coming soon

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