Who is at risk for dwarfism

Short stature disorders do not include familial short stature — short height that's considered a normal variation with normal bone development. Signs and symptoms — other than short stature — vary considerably across the spectrum of disorders. Most people with dwarfism have disorders that cause disproportionately short stature. Usually, this means that a person has an average-size trunk and very short limbs, but some people may have a very short trunk and shortened but disproportionately large limbs.

In these disorders, the head is disproportionately large compared with the body. Almost all people with disproportionate dwarfism have normal intellectual capacities. Rare exceptions are usually the result of a secondary factor, such as excess fluid around the brain hydrocephalus.

The most common cause of dwarfism is a disorder called achondroplasia, which causes disproportionately short stature. This disorder usually results in the following:. Another cause of disproportionate dwarfism is a rare disorder called spondyloepiphyseal dysplasia congenita SEDC. Signs may include:. Proportionate dwarfism results from medical conditions present at birth or appearing in early childhood that limit overall growth and development.

So the head, trunk and limbs are all small, but they're proportionate to each other. Because these disorders affect overall growth, many of them result in poor development of one or more body systems. Growth hormone deficiency is a relatively common cause of proportionate dwarfism. It occurs when the pituitary gland fails to produce an adequate supply of growth hormone, which is essential for normal childhood growth. Signs include:. Signs and symptoms of disproportionate dwarfism are often present at birth or in early infancy.

Proportionate dwarfism may not be immediately apparent. See your child's doctor if you have any concerns about your child's growth or overall development. Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown. Most occurrences of dwarfism result from a random genetic mutation in either the father's sperm or the mother's egg rather than from either parent's complete genetic makeup.

About 80 percent of people with achondroplasia are born to parents of average height. The two types of this disproportion are short-trunk and short-limb: Short-trunk dwarfism : The torso is shortened when compared with the limbs.

Short-limb dwarfism: The limbs are shortened when compared with the trunk. Other common features may include: a larger head with a prominent forehead a flattened bridge of the nose shortened hands and fingers a sway of the lower back bowed legs The average adult height for someone with achondroplasia is around 4 feet tall.

They might also have: a cleft palate changes in the outer ear also known as a cauliflower-like appearance differently positioned thumbs also called hitchhiker thumbs clubfeet inward or downward pointing feet spine curves that can change over time Most people with diastrophic dysplasia have joint changes that limit movement.

Possible Complications and Treatments Each condition that causes dwarfism has its own possible medical complications, which can change over time.

How Can Parents Help? Here are some general tips to keep in mind: Treat your child according to their age and developmental level, not their size. A 2-year-old should not still use a bottle, for example, even if she's the size of a 1-year-old. And, if you expect a 6-year-old to clean up his room, don't make an exception because your child is small. Make changes to your child's environment to promote independence. Simple, inexpensive options include light switch extenders or a step-stools.

Treat your child's skeletal dysplasia as a difference, not a problem. Your attitude and expectations can greatly influence your child's self-esteem. Ask how your child wants to refer to their dwarfism. Some people prefer "little person" or "person of short stature. Address questions or comments as directly as possible, then point out something special about your child. Your child will see that you notice the qualities that make them unique.

This helps prepare your child for responding to these situations when you're not there. If your child is teased at school, don't overlook it. Talk to teachers and administrators to make sure your child is getting support they need. Offer to work with the school to educate others about dwarfism. Help your child learn about their condition and possible health care needs as your child gets older and more independent. Encourage your child to find a hobby or activity to enjoy.

Dwarfism is a medical or genetic condition that causes someone to be considerably shorter than an average-sized man or woman. Be mindful of the words or label a person with dwarfism uses to describe themselves.

Also be sensitive to the challenges or prejudice they may face in everyday life. Though there are many different causes of dwarfism, there are two main types of the condition: proportionate and disproportionate. When the head, trunk, and limbs are all proportionate to each other, but much smaller than those of an average-sized person, the condition is known as proportionate dwarfism. This type of dwarfism is often the result of a hormone deficiency.

It can often be treated with hormone injections while a child is still growing. As a result, someone born with proportionate dwarfism may be able to reach an average height or get close to it. This is the most common kind of dwarfism. For example, a genetic condition called achondroplasia results in arms and legs that are significantly shorter than those of a person of average size, but the trunk is like that of someone unaffected by dwarfism.

In some cases, the head of a person with disproportionate dwarfism may be slightly larger than that of a person without dwarfism. Researchers believe there are more than conditions that cause dwarfism. Most causes are genetic. The most common causes include:. Though achondroplasia is a genetic condition, four out of five people who have it also have two parents who are average sized.

If you have achondroplasia, you have one mutated gene associated with the condition and one unaffected version of that gene. This is the most common cause of dwarfism. This condition affects only females.

Instead of inheriting two fully functioning X chromosomes from your parents, you inherit one X chromosome and are missing a second, or at least part of a second, X chromosome. Males, by comparison, have an X chromosome and a Y chromosome. In many cases, the reasons for growth hormone deficiency are never diagnosed. An underactive thyroid , especially if it develops at a young age, can lead to many health problems, including limited growth. Other complications include low energy, cognitive problems, and puffy facial features.

The pregnancy may go to full term, but the baby is usually much smaller than average. The result is typically proportional dwarfism. Dwarfism is usually the result of a genetic mutation. In cases of DSS where the legs are particularly short, a leg-lengthening procedure is sometimes used, but there's some uncertainty about its safety and effectiveness. Read more about treatments for restricted growth.

Page last reviewed: 30 March Next review due: 30 March There are 2 main types of restricted growth: proportionate short stature PSS — a general lack of growth in the body, arms and legs disproportionate short stature DSS — where the arms and legs are particularly short As well as being short, some people with restricted growth also have other physical problems, such as bowed legs or an unusually curved spine.

What causes restricted growth? Causes of PSS The most common cause of PSS is being born to small parents, but it's sometimes the result of the body not producing enough growth hormone.