Dwarfism/Short Stature

Dwarfism is the medical term for having very short stature. In adults, it means having a height of under 4 feet, 10 inches (147 centimeters). Dwarfism isn’t a disease on its own. But there are hundreds of causes, including diseases. Healthcare providers usually diagnose dwarfism in childhood.

Dwarfism is a medical term, but it’s offensive to call someone who has it a dwarf. The preferred terms are little person/little people. Other slang terms like midget are also offensive. Medical experts also use the terms “short stature” and “restricted growth” instead of dwarfism.

Dwarfism has two main forms:

• Disproportionate dwarfism makes some body parts look too long or too short compared to other body parts. For example, a person might have arms and legs that look overly short compared to their head and torso.
• Proportionate dwarfism means all body parts have lengths somewhere in the expected range.

Symptoms of dwarfism

The main effect of dwarfism is having a very short height for your age. Healthcare providers usually diagnose dwarfism in newborns or young children.

Symptoms of dwarfism include differences in the:

• Size of your head
• Shape or arrangement of certain features on your face
• Length or shape of your arms, legs, hands or feet
• Curves of your spine

Other symptoms or effects can happen, depending on which form of dwarfism you have or why you have it. Your healthcare provider can tell you more about what to expect.

Dwarfism causes

Hundreds of medical conditions can cause short stature and dwarfism. They usually fall under the following types:

• Genetic disorders: Achondroplasia is a genetic disorder that causes about 4 out of 5 dwarfism cases. Other genetic conditions can cause dwarfism, too. Examples include hypochondroplasia, Down syndrome and Turner syndrome. It’s sometimes inherited from one or both parents.
• Bone diseases: Dwarfism is a common effect of skeletal dysplasias. Those are diseases that affect how your bones grow and develop.
• Endocrine disorders: These disorders affect how your body makes and uses various hormones, especially those that affect your growth. Growth hormone deficiency is an example of this.
• Systemic diseases: Some diseases that affect multiple body systems can slow or limit growth. Examples include inflammatory diseases like juvenile idiopathic arthritis, chronic kidney disease and cancers.
• Nutrition-related issues: Malnutrition can disrupt your body’s growth. Conditions that affect how you absorb nutrients can cause growth problems, too. Examples include inflammatory bowel disease and celiac disease.

Some people have short stature even though they don’t have a disease or condition causing it. While their height meets the definition of dwarfism, their body developed as expected.

Some examples of ways this might happen include:

• Familial short stature: Some people meet the definition of dwarfism because short stature runs in their families.
• Constitutional delay of growth and puberty: Some people have short stature as children, but eventually reach a normal height as adults. Experts sometimes call people who do this “late bloomers.”
• Idiopathic short stature: Sometimes, short stature happens for reasons that experts can’t explain. Having this means healthcare providers ruled out all other possible causes of dwarfism.

Complications of dwarfism

The complications of dwarfism depend partly on why you have it.

Some conditions that cause dwarfism can also cause a variety of complications, ranging from minor to severe. Some examples of disease-specific complications include:

• Brain development differences that cause developmental delays or intellectual disabilities
• Spine issues that cause leg tingling, numbness, pain or even paralysis
• Sleep conditions like obstructive sleep apnea

Other complications may also be possible, depending on your specific case. Your healthcare provider can tell you more about what you might face.

How doctors diagnose dwarfism

Healthcare providers may first suspect dwarfism based on fetal ultrasound imaging during pregnancy. Some of the differences that happen with dwarfism are visible on those scans.

After birth, providers can start the diagnosis process with a simple physical exam. It’s common for dwarfism to cause body size and structure differences that are visible at birth or shortly after. They’ll likely begin by taking detailed measurements to check for clear differences or issues.

Once your provider suspects dwarfism, they’ll use diagnostic testing to try to find the specific cause. Some examples of tests they will likely use include:

• Imaging scans
• Lab testing
• DNA testing

Other tests are possible, depending on your symptoms and health history. Ask your provider if you have questions about the tests they recommend.

How is dwarfism treated?

Dwarfism has several possible treatments. But they can vary, depending on the type of dwarfism you have or what caused it. Many people with dwarfism don’t need treatment because it isn’t causing them any harm. And some people with dwarfism may not want treatment because they don’t feel the benefits outweigh the possible drawbacks.

For those who do want or need treatment, the following may be options:

• Medicines: If you have dwarfism from achondroplasia, a drug called vosoritide (Voxzogo®) may also help. Growth hormone treatments may also help with certain types of dwarfism.
• Orthotic devices: These are medical devices you wear or use to help support your body. These compensate for the effects of dwarfism. Examples include back braces for scoliosis or special shoes to help with posture and gait.
• Bone-lengthening procedures: These generally involve inserting rods, screws and other hardware into your limbs. A surgeon can place and adjust these over time, using your bones’ natural healing processes to slowly lengthen your limbs.
• Surgery: You might need surgery to repair the effects of dwarfism. Spine surgery to correct spinal stenosis is an example.

What can I expect if I have dwarfism?

What you can expect from dwarfism varies widely. Many with dwarfism live just as long as people without it and have little or no negative health effects. But some with dwarfism have it because of conditions that affect other body systems, and that could impact your life expectancy. Your healthcare provider is the best person to tell you what to expect in your case.

Many countries consider dwarfism a disability. That means people who have it have certain legal protections. And they may also qualify for support services and care.

When should I be concerned about my child’s height?

Your child’s pediatrician will take regular measurements during well visits and checkups. During your child’s first few years of life, they’ll look for any signs of growth delays. But as your child gets older, you might start to notice differences between your child and others their age. If you have questions about your child’s growth, you can call their pediatrician or schedule an appointment. Their pediatrician can check your child’s growth and tell you if there’s any cause for concern. And if they do find an issue, they can guide you on what to do about it.

What is the difference between short stature and dwarfism?

Dwarfism and short stature are the same thing. They both apply to someone whose height is significantly lower than expected for their age. For adults, that’s having a height of 4 ft, 10 in (147 cm) or less.