Most people with dwarfism lead relatively long and healthy lives, and the main problem they face is discrimination. For others, there are health issues to be aware of.
What is dwarfism?
Dwarfism is a condition where a person has stunted growth so that they are an unusually small size or have short stature (height). Short stature is generally defined as an adult height of 147cm or less, although most people with dwarfism only grow to between 120cm and 130cm.
There are two main types of dwarfism:
- People with proportionate dwarfism have short stature but with normal body proportions.
- People with disproportionate dwarfism have some parts of the body, such as the arms and legs, that are smaller than average, but other parts that are normal size.
Causes of dwarfism
Most people with dwarfism have normal-sized parents and their condition is caused by a random genetic condition – a change in the father’s sperm or the mother’s egg just before conception.
But there are hundreds of other conditions that can cause dwarfism. The most common cause is a genetic condition known as achondroplasia, in which the bones grow abnormally. Other causes of dwarfism include:
- a chromosome abnormality such as Turner syndrome
- a deficiency in human growth hormone
- a medical problem such as chronic kidney disease, inflammatory conditions, or problems with absorbing nutrients
Sometimes, the cause is simply unknown.
Symptoms of dwarfism
People with proportionate dwarfism usually have a medical condition that affects their overall growth and development. They are usually slow to grow and slow to develop sexually.
People with disproportionate dwarfism often have a large head with a prominent forehead and short hands and fingers. Some have problems with bones and joints, and some have difficulties with vision or hearing.
Diagnosis of dwarfism
Sometimes dwarfism can be diagnosed at birth, or even before. If not, it becomes obvious as a child gets older. To diagnose dwarfism, doctors usually:
- take a full medical and family history
- collect measurements, such as height and weight
- do some blood tests (sometimes including hormone tests)
- do imaging, such as x-rays, an MRI or a CT scan
Some people might be asked to have genetic testing.
Living with dwarfism
Most people with dwarfism have normal intelligence, health and lifespan.
Some people with the condition can be treated with growth hormone under the Pharmaceutical Benefits Scheme (PBS). But there is no treatment that will increase the height of people with achondroplasia and other genetic conditions.
Otherwise, if people with dwarfism have a health issue, it can be addressed in the same way as it would for other people.
People with dwarfism would benefit from social and emotional support to deal with the discrimination they are likely to face. Knowing there are others in a similar situation is likely to help. Contact the Short Statured People of Australia organisation for more information.
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Last reviewed: February 2018