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Diseases

Genetic and Rare Diseases Information Center (GARD)

Dwarfism

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* Not a rare disease

Your Question

I am 4 feet, 11 inches tall with many medical complications since childhood. How can I find out if I have dwarfism or any other condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is dwarfism?

Dwarfism is a condition that is characterized by short stature, usually resulting in an adult height of 4'10" or shorter.[1][2] Dwarfism can and most often does occur in families where both parents are of average height.[3] It can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia.[3] Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease; however, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and a normal life expectancy.[4]
Last updated: 5/19/2011

How is dwarfism diagnosed?

Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. However, most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the child's appearance, failure to grow, and X-rays of the bones. Depending on the type of dwarfism the child has, diagnosis often can be made almost immediately after birth. Once a diagnosis is made, there is no "treatment" for most of the conditions that lead to short stature. Hormonal or metabolic problems may be treated with hormone injections or special diets to spark a child's growth, but skeletal dysplasias cannot be "cured."[3] Individuals who are interested in learning whether they or family members have, or are at risk for, dwarfism should speak with their health care provider or a genetics professional.
Last updated: 5/19/2011

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

References