What is Dwarfism?

Dwarfism is a disability that affects around six thousand people in the UK. There are hundreds of different types of dwarfism, with different causes and symptoms for each type.

What is dwarfism?

Dwarfism, also known as skeletal dysplasia, is a condition where a person’s stature is stunted, meaning that they are restricted in height compared to the average height of a woman. It is a genetic condition that someone is born with, rather than developed. Dwarfism is usually identified where adults are under the height of 4ft10in (147cm), though the average height of people with dwarfism is 122cm.

What are the different types of dwarfism?

There are hundreds of different types of dwarfism, though only a few are considered to be common.

There are two main categories of dwarfism, in which there are many causes and variations.

Proportionate dwarfism is when all the body parts are proportionate to each other, but they are shorter than average.

Disproportionate dwarfism is when the torso is the expected size for an adult, but the limbs and other body parts are shortened, or the torso is shortened, but the limbs are longer.

• The most common type of dwarfism is Achondroplasia, where people have a typically average sized torso, but bone growth is affected, thus they have shorter legs and arms. Roughly one in every 25,00 babies in the UK is born with achondroplasia, and in the majority of cases, there is no prior record of dwarfism in their family. Achondroplasia has been known to be triggered by a mutation of the gene FGFR3, but can also be inherited through parents who have achondroplasia, at a 50% chance.
• Hypochondroplasia is a similar condition, but the characteristics are not as visible. Again, hypochondroplasia affects the growth of the bone, where the conversion of cartilage is hindered in the longer limbs of the arms and legs.
• Pseudoachondroplasia is akin to achondroplasia and hypochondroplasia, but this typically affects bodily height overall. Pseudoachondroplasia is less common, and any indication of the condition may not appear until the child is at least two years old.
• Spondyloepiphyseal dysplasia (SED) is a form of dwarfism that does not present until the child is around the age of five years old. People with spondyloepiphyseal dysplasia have a shorter torso than average.
• Diastrophic dysplasia is one of the rarest forms of dwarfism, occurring in about one in 100,000 children. People with diastrophic dysplasia have shorter forearms and calves.
• Turner syndrome is a form of dwarfism that only impacts females. Affecting around one baby in every 2,000, Turner syndrome is a result of missing chromosomes. People with Turner syndrome are usually around 4ft7in in height.

What are the signs and symptoms of dwarfism?

As there are different forms of dwarfism, there are different symptoms for each type.

The signs and symptoms of disproportionate dwarfism are:

• A typically average sized torso.
• A height of 4ft.
• Shortened arms and legs, specifically in the upper limbs.
• Larger than average head.
• Larger forehead.
• Flattened nose bridge.
• Short fingers.
• Bowed legs.

In the rarer form of disproportionate dwarfism, spondyloepiphyseal dysplasia, symptoms include:

• A short torso.
• Typically sized feet and hands.
• Cleft palate.
• Short neck with unstable bones.
• A height between 3ft and 4ft.
• Arthritis and mobility issues.
• Curved upper spine.
• Hip issues that lead to deformed thighbones.
• Twisted feet.
• Vision problems.
• Hearing issues.

Turner syndrome has specific symptoms, including:

• Kidney problems.
• Heart issues.
• Droopy eyelids.
• Underdevelopment of the ovaries.
• Short in height.
• Excess fluid in the hands and feet.
• Unusually shaped ears.

People with proportionate dwarfism have proportionate body parts that are all significantly smaller than average.

The signs of proportionate dwarfism are apparent at birth or in early childhood, and include:

• Very low birth weight.
• Short height, below the third percentile.
• Slow growth rate.
• Child does not go through puberty, or puberty is delayed.

What causes dwarfism?

Most forms of dwarfism are caused by genetic mutations in the egg or the sperm prior to conception. Some other forms of dwarfism are caused due to inheriting genes from their parents.

The majority of people with the most common type of dwarfism, achondroplasia, have parents that are not affected by dwarfism. However, there is a 50% risk of inheriting achondroplasia from a parent if one of the parents is affected.

If both parents are affected by achondroplasia, the child will have a 25% chance of not inheriting the gene at all, a 50% chance of inheriting the condition from one parent, and a 25% chance of inheriting the gene from both parents, which results in a condition known as homozygous achondroplasia. This condition is fatal, where children do not live beyond 1 year.

There are more than 400 types of dwarfism, and other causes include:

• A lack of growth hormone. A deficiency in growth hormone can affect bone growth and development. This is sometimes known as Growth Hormone Deficiency (GHD) or pituitary dwarfism.
• Malnutrition can lead to weakness in bones and muscles, which can lead to stunted growth. This can be helped with a nutritious diet.

What are the complications of dwarfism?

There are over 400 different forms of dwarfism and many complications that are associated generally with the condition.

For people with disproportionate dwarfism, complications may include:

• Arthritis. You can read more about arthritis by visiting our knowledge base.
• Bowed legs.
• Excess teeth.
• Spinal stenosis which can affect the spinal cord, causing pain or loss of sensation in the legs.
• Sleep apnoea, which causes problems with breathing during sleep.
• Loss of hearing/repeated ear infections.
• Hunched back that becomes worse over time.
• Excess weight.
• Extra fluid around the brain.

For those with proportionate dwarfism, complications can usually be attributed to the underdevelopment of bodily organs. There may also be some complications during pregnancy if the mother has dwarfism, as they may not be able to deliver the baby through vaginal childbirth, owing to the size and shape of the pelvis.

How is dwarfism diagnosed?

Dwarfism, or restricted growth, is not always detectable before birth, and is sometimes not detected or diagnosed until the extent of the restricted growth is much more noticeable, later on in childhood.

Tests during pregnancy

It is sometimes possible to detect restricted growth during the late stage of pregnancy, where an ultrasound may show that the baby has shorter limbs than average, or that their head is bigger than average.

After birth

During their medical check-ups, the health visitor will measure the child’s height and weight, and determine which percentile the child falls into. This can be the first indication that a child may have restricted growth. You can read more about child development by visiting our knowledge base.

The health visitor will also look out for any noticeable distinguished facial features that are linked to some forms of dwarfism. If the health visitor believes that there is a cause for concern from any of the data they have observed, they will refer the child to their GP or a specialist who will be able to perform further diagnostic tests, such as X-rays, which can detect bone immaturity.

Genetic testing can also be performed, which can examine many of the genes that are associated with dwarfism. These tests are usually performed when other forms of examination aren’t conclusive. Prior to genetic testing, it is likely that tests that detect hormone levels will be carried out.

How is dwarfism treated?

There is no cure for dwarfism. However, there are treatments that can help to reduce the impact of symptoms, thus increasing quality of life. It is highly unlikely that treatments for dwarfism will increase height, unless the condition is related to growth hormone deficiency.

A child who is diagnosed with a form of dwarfism will likely be cared for by a team of specialists from the following disciplines:

• Audiology.
• Neurology.
• Speech and Language Therapy.
• Occupational Therapy.
• Physiotherapy. You can read more about physiotherapy by clicking here.
• Orthopaedia.
• Paediatrics.

Surgery

Surgery can help to reduce the impact of some of the complications that are associated with dwarfism. It can help to correct the shape of the spine by the way in which bones grow. It can also help to reduce the pressure on the spinal cord by making the vertebrae wider, or relieving pressure on the brain by draining excess fluid if it is present. Surgery cannot change height, though it may help posture, which can have a secondary effect on height.

Surgery can also involve limb extension, sometimes called distraction. During this process, the limb (usually the leg) is broken, and supported by a frame, which then allows the limb to be stretched and for bone to grow between the break in the bone. This surgery has a high risk of complications, which include fractures, weak bones, infections and blood clots, and is only offered to adults.

Surgery is often used to correct symptoms such as a cleft palate, or to improve breathing problems through procedures such as a tracheotomy and tonsil extraction.

Hormonal therapy

Where restricted growth can be attributed to a growth hormone deficiency, artificial hormones can be administered, which can trigger growth and potentially increase height.

This is usually administered to children through injections of hormones such as Somatropin, over many years, stopping when they reach an expected height, which is typically determined by studying height in their family. However, for some people, hormone therapy may be needed throughout their life to maintain growth and prevent osteoporosis. For girls with Turner syndrome, they will also need oestrogen to trigger sexual maturation.

Other treatments

Other treatments that may be given to people with dwarfism are:

• Physiotherapy. This can help to make the muscles stronger.
• Dental treatments to remove or adjust teeth, to create more room in the mouth.
• Guidance from a dietician, who can help to adjust the diet and avoid excess weight gain.
• Putting tubes in the ear to drain fluid, which can prevent ear infections.

How does dwarfism affect someone’s life?

There is a long-standing stigma around people with dwarfism, which is slowly diminishing with the increased awareness of the condition. However, many people with dwarfism suffer from bullying throughout their lives. People may point, stare and even laugh at people with dwarfism, and children may be bullied at school, both verbally and physically. Unfortunately, as the condition is obvious, many people with dwarfism find that they are defined by their condition, rather than by who they are.

The term ‘midget’ is often used to describe people with dwarfism, but this is an offensive term, deemed inappropriate. Generally accepted terms are ‘little person’, ‘LP’, ‘a person of short stature’, ‘a person with dwarfism’, ‘dwarf’ or ‘person with restricted growth’. Many people with dwarfism have come forward to share their experiences in society, which has had a positive effect on the perception of little people.

Many children with dwarfism attend a school that has been specially adapted to the needs of people with reduced stature, which makes it much easier to learn and play. However, many people with dwarfism have to function in a world that is not adapted to their needs, which can be frustrating, cause low self-esteem and lead to conditions such as anxiety and depression. You can read more about anxiety by visiting our knowledge base.

Due to the complications associated with some forms of dwarfism, day-to-day life can be hard, with some complications impacting the ability to carry out tasks. Studies show that, overall, people with dwarfism have a lower quality of life compared to those without the condition. However, this does not mean that life is unhappy.

Many people with dwarfism lead happy lives, have jobs, a rich social life and have families. There is a lot that employers can do to support people with dwarfism. You can read more about making the workplace disability friendly by visiting our knowledge base.

Who can help to support people with dwarfism?

• Little People UK is a charity founded to provide a support network for people with dwarfism. It puts on events and fundraisers to raise awareness around the condition.
• The Restricted Growth Association provides support and useful information for people with dwarfism. They aim to relieve the disadvantage for people with dwarfism and their families.
• The Child Growth Foundation is a charity dedicated to supporting children and families affected by a range of growth conditions. They conduct research, raise awareness and help healthcare professionals to deliver the best course of care.