Taken from KidsHealth Magazine, August, 2002.

If your child has been diagnosed with dwarfism, you're probably wondering what lies ahead for her and your family. You may be asking if your child will lead a normal life, or perhaps you're concerned about the challenges she'll face growing up with below-average height.

It may be comforting to know that your family is not alone. Although estimates vary, between one in 14,000 and one in 27,000 babies are born each year with some form of dwarfism. Many people with dwarfism and their families belong to active social and support groups for people of short stature. To learn more about the condition and living with dwarfism, read on.

What Is Dwarfism?
Dwarfism describes an unusually short stature that can arise from a variety of genetic and other conditions. The Little People of America, one of the largest and most active support groups for people with dwarfism, considers dwarfism to be an adult height of 4 feet 10 inches or less.

Many types of dwarfism are skeletal dysplasias, conditions marked by abnormal bone growth. They are divided into two types: short-trunk and short-limb dysplasias.

People with short-trunk dysplasia have a shortened trunk with relatively longer limbs, whereas those with short-limb dysplasia have a near-normal size trunk but small arms and legs. Both types cause disproportionate short stature, which means that the parts of the body are not in proportion to one another: some parts are approximately average size, whereas others are significantly shorter.

In the past, the terms "dwarfism" and "dwarf" were only used to refer to these cases of disproportionate short stature. The term "midget" was usually applied to conditions of proportionate short stature, in which all parts of the body match in size. However, the word "midget" now is considered offensive by many people of short stature and has fallen into disuse. Today the term "dwarf" also takes a back seat to "little person," "person of short stature," or "person with dwarfism." Just like anyone else, though, people of short stature most like to be known by their names instead of any identifying characteristics like dwarfism.

What Causes Dwarfism?
More than 200 recognized conditions cause dwarfism. Most of them are genetic, resulting from either a spontaneous genetic change (or mutation) or genes inherited from one or both parents. In cases of both spontaneous mutation and inherited genes, two average-size parents can have a child with short stature. In fact, 85% of children with achondroplasia, the most common form of dwarfism, are born to average-size parents. Dwarfism occurs in all ethnic groups.

In instances of spontaneous genetic change, a single normal gene in a chromosome that a parent passes to the child suddenly changes (mutates) in such a way that it brings about that specific condition. Scientists do not yet know what prompts the genes to undergo that change.

Inherited conditions, on the other hand, are carried by one or both parents in their genes - they are a part of the parent's genetic makeup instead of a sudden mutation.

Spontaneous mutation can occur in any pregnancy and is the more frequent cause of a child with dwarfism being born to average-size parents. However, if both parents carry a recessive gene for a particular condition that produces dwarfism (meaning they possess the gene that causes the condition but do not actually have the condition themselves), and they both pass that gene to their child, the child would be of short stature.

By far the most common causes of dwarfism are the skeletal dysplasias, including:

Achondroplasia is a form of short-limb dwarfism caused by a single autosomal dominant gene. That means a spontaneous mutation in this one gene can produce the condition or a child can inherit the gene from a parent who has achondroplasia. People with achondroplasia have a relatively long trunk and shortened upper parts of their arms and legs (the parts connected to the shoulders and hips), known as rhizomelic shortening of the limbs.

People with diastrophic dysplasia, another form of short-limb dwarfism, can have shortened upper or middle sections (the forearms and calves) of their arms and legs; the latter is known as mesomelic shortening. Significant bowing of the legs further reduces their height. Doctors originally thought diastrophic dysplasia was a variation of achondroplasia, but it has come to be recognized as a distinct condition with its own characteristics.

The spondyloepiphyseal dysplasias are a very large group of skeletal conditions that cause short-trunk dwarfism. They are distinguished by abnormal growth in the spine and long bones of the body, which leads to a short trunk. In one form of SED, spondyloepiphyseal dysplasia tarda, the lack of growth in the trunk may not become apparent for several years, until the child is between 5 and 10 years old. By contrast, children with spondyloepiphyseal dysplasia congenita have a short neck and trunk, with a barrel-shaped chest, at birth.

Unlike the skeletal dysplasias, which largely produce disproportionate forms of dwarfism, proportionate types of dwarfism usually result from metabolic or hormonal disorders in infancy or childhood. Chromosomal abnormalities, pituitary gland disorders (which influence growth and metabolism), absorptive problems (when the body can't absorb nutrients adequately), malnutrition, failure to thrive, and kidney disease can all lead to short stature if the child fails to grow at a normal rate.

What Are the Signs of Dwarfism?
The signs of dwarfism vary depending on the specific condition that causes it. Short stature and short limbs are the most recognizable indicators. In addition, some children have a large head or a bulging forehead and may experience hydrocephalus (excess fluid around the brain) in infancy. Other possible complications include apnea - a temporary stop in breathing while the child is sleep - caused by abnormally small or misshapen airways or, more likely, from compression of part of the brain or spinal cord, which is sometimes seen in certain forms of dwarfism.

As children with dwarfism grow, they may show other signs as well, such as:

The combination of limited joint flexibility and a curved spine often leads to joint and back problems, numbness, and fatigue in later childhood and adolescence. Early arthritis frequently follows once the person reaches her 20s or 30s.

Although these signs apply to some types of dwarfism, they are not universal to all forms (short stature is the one quality all people with dwarfism have in common). Each condition that causes dwarfism has a specific set of characteristics. People with achondroplasia, for example, usually have a large head; a prominent forehead; a pronounced abdomen; bowed legs; short feet and fingers; and limited flexibility of the elbows and hips, in addition to shortened limbs.

By contrast, those with diastrophic dysplasia often have clubfoot; broad hands with low-set "hitchhiker" thumbs (the thumbs turn out like the sign a hitchhiker makes); cysts on the upper portion of the ear that frequently progress to swelling and irregular thickening of the ears; and short, bowed limbs. Although the size of the head appears normal upon birth, the face usually develops a long, full appearance with a high, broad forehead and square jaw.

Diagnosis and Treatment
Some types of dwarfism can be identified through prenatal testing, if a doctor suspects a particular condition and tests for it. But most cases are not identified until after birth. In those instances, the doctor makes a diagnosis based on the child's appearance, failure to grow, and X-rays of the bones.

Once a diagnosis is made, there is no "treatment" for most of the conditions that lead to dwarfism. 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." However, people with these types of dwarfism benefit from medical care to lessen some of the complications of their short stature.

Joint-replacement surgery brings relief from the pain of joints that wear out under the stress of bearing weight differently with limited flexibility. Some children have hip surgery to help line up their hips and ease the stress on their joints; as adults, they may also have hip-replacement surgery. Other people with dwarfism may have an operation to fuse part of their spine to strengthen their neck or back.

One controversial procedure that some people with achondroplasia have chosen to undergo lengthens limbs by cutting the bones in the arms or legs and inserting pins into the bones to hold the ends apart. New bone growth gradually fills in the space, thereby lengthening the limb. This surgery is elective, and many people with dwarfism or those who advocate on their behalf do not recommend it, as they do not believe their short stature needs to be "corrected."

Limb lengthening is a prolonged process that can take 2 or more years and may carry complications, such as infections around the inserted pins. It is also painful, like the healing of any broken bone. Moreover, as limb lengthening is a relatively new operation - it made its first appearance about 20 years ago - the long-term physical results of the process have not been thoroughly evaluated. There is some evidence that it might help spinal alignment and decrease the incidence of neurological problems in the lower spine. If that proves to be true, the surgery could be recommended in some cases in the future.

Living With Dwarfism
Although types of dwarfism, as well as their severity and complications, vary from person to person, most people with dwarfism have normal life spans and intelligence. They lead full lives, marry, have children, and participate in numerous career fields. Although people with dwarfism are protected under the Americans with Disabilities Act, many members of that community disagree that they have a disability.

You can help your child with dwarfism lead the best life possible by building her independence and self-esteem from the beginning. Start by treating your child for her age, not her size. If you expect a 6-year-old to clean up her own room, don't make an exception for your child simply because she is small. Try not to single her out for her difference, even if it is in a "positive" way: Avoid babying or coddling her any more than you would a child of average height, and let her attend a regular school, particularly if she has siblings of average height.

At home, and especially when she starts school, your child will likely need certain adaptive products to help her get around in a world built for taller people. Telescoping poles or pointers will allow her to reach light switches and buttons, and a special expandable wand that holds toilet paper can give a young child independence in the bathroom if her arms are not yet long enough to wipe her bottom. Children of short stature require stools to reach sinks or shelves, as well as one under their chair so their legs will not dangle and grow numb. Younger children may also need clothing modified with Velcro closures or loops to help them dress easily.

At some point, you'll have to explain your child's condition to her. How you present it - as a difference, not a hindrance - can influence how your child feels about her diagnosis. Let your child ask questions and express how she feels about being short, and answer her honestly with age-appropriate information that she can understand.

In past years, people with dwarfism unfortunately were often the subject of discrimination, mean humor, and even fear. These reactions were mostly due to ignorance - and many of them have lessened considerably in recent times. Still, people with dwarfism may evoke responses from others, from simple curiosity to outright prejudice. As children with dwarfism get older, both they and their parents will learn to deal with the reactions of others.

You will have to contend with questions and comments from other people. They may be directed at you in your child's presence or at your child when she is at school. Your response can have a significant effect on how your child views herself: Respond to a stranger's na�ve, or even tactless, comment with anger, and your child may think her condition is something to be ashamed of or angry about. Instead, answer directly with the necessary information, then try to point out something else about your child, such as her beautiful brown eyes or a great picture she just drew in school. If your child is with you, this approach reminds her that you notice all the other qualities that make her the special person she is, not just her dwarfism.

Your child may also face questions at school from other children. Teach her to respond with information, not embarrassment or anger. If someone insults your child, don't just tell her to overlook it. Let her talk to you about how it makes her feel and discuss why that child might have said what he did.

Of course, your child will encounter some limitations to what she can do. Sports will probably be difficult for your child (and contact sports are actually dangerous for people with dwarfism), so try to encourage her to pursue interests in areas where she might excel, like music, computers, or photography. Involvement in support groups for people with dwarfism, such as Little People of America, can allow your child to meet people like her. Over time, getting to know other people with dwarfism will show her just how much she can achieve.

Reviewed by: Charles Scott, MD, and Linda Nicholson, MS, MC
Date reviewed: January 2002

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