Genetic Rare Diseases Information Center. Updated May 19, Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. Harvard Medical School. What happens during OSA. Reviewed May 4, Growth hormone receptor mutations related to individual dwarfism.
Int J Mol Sci. Published August 18, Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length. Am J Med Genet A.
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I Accept Show Purposes. Table of Contents View All. Table of Contents. Was this page helpful? Thanks for your feedback! Sign Up. What are your concerns? Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. 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. But having a gene or genes responsible for dwarfism can occur in a couple of ways. In some cases, it can happen spontaneously. Most pregnant women have a prenatal ultrasound to measure the baby's growth at around 20 weeks. At that stage, features of achondroplasia aren't yet noticeable.
Doctors sometimes suspect achondroplasia before birth if an ultrasound late in a pregnancy shows that a baby's arms and legs are shorter than average and the head is larger. But many children with achondroplasia aren't diagnosed until after birth. Doctors can recognize some other types of skeletal dysplasia earlier in pregnancy.
Others aren't noticed until the first few months or years of life, when a child's growth slows. A health care provider may take X-rays after birth to check for bone changes.
Doctors also may use genetic testing before or after birth to confirm the diagnosis. Each condition that causes dwarfism has its own possible medical complications, which can change over time.
But doctors can treat many of these. Children with dwarfism are cared for by doctors who specialize in orthopedics, neurosurgery, ENT, and pulmonology. Some medical concerns are treated with surgery. These are done with anesthesia, which can be more of a risk for little people because of their smaller body size and airways. Because of their shorter stature and differences in bone growth, children with dwarfism often learn to roll over, sit up, and walk at different ages than average-height children.
These are not considered delays, but developmental differences. Children with dwarfism figure out how to do it in their own time and in their own way. People with dwarfism should try to keep a healthy weight. A few extra pounds can puts harmful stress on the back and joints.
It's important for them to find safe and enjoyable physical activities. People with dwarfism can lead healthy, active lives. The Americans with Disabilities Act protects their rights. Types of skeletal dysplasia and the severity of medical needs vary from person to person. In general, with proper medical care, life span is not affected by dwarfism. Because of this, little people usually go through more surgeries than the average-size person, especially as children.
These surgeries require anesthesia, and that can be more of a risk for people with dwarfism because of their smaller body size and airways, and sometimes associated curvature of the spine. Because of their shorter stature and physical differences in bone growth, children with dwarfism usually learn to roll over, sit up, and walk at older ages than average-size kids. Their bodies may be a little different and it might take them a little longer, but they do figure out how to do it in their own time and in their own way.
A few extra pounds on a little person can be more of a problem than a few extra pounds on an average-size person. Extra weight causes harmful stress on the back and joints. Most of the complications that happen in people with dwarfism are physical in nature and do not affect their intellectual ability. In fact, little people often develop a sense of ingenuity because they often have to find clever ways of doing things in the average-size world.
Treatment often includes providing emotional support for people and families living with dwarfism. Short-statured people often have to interact with people unfamiliar with dwarfism who make assumptions about their capabilities without knowing enough about it or getting to know someone with it. For short-statured people, meeting others can sometimes be challenging, especially those who are unfamiliar with dwarfism.
Reviewed by: Angela L. Note: All information on KidsHealth is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor. All rights reserved. Find a Doctor. About Us. Community Programs. California Kids Care. International Services.
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