May also be called: Achondroplastic Dwarfism; Skeletal Dysplasia
Achondroplasia (ay-kon-druh-PLAY-zhee-uh) is a genetic disorder that interferes with bone growth and causes dwarfism (short stature).
During a baby's development in the womb, much of the skeleton is made up of a tough, flexible tissue called cartilage. Normally, cartilage is converted to bone by a process called ossification. With achondroplasia, the body has a problem growing cartilage and converting it to bone, especially in the long bones of the arms and legs. This results in shorter bones, short stature, and often a large head with a prominent forehead. It can also cause knock-knees, bow-leggedness, or excessive curving of the lower back (lordosis or kyphosis).
Achondroplasia is the most common cause of dwarfism. It happens because of a mutation in a gene that develops and maintains bone tissue. Achondroplasia can be inherited from a parent, but in most cases, the mutation in the gene happens at random. Most people with achondroplasia have normal-sized parents.
Since achondroplasia is due to a genetic mutation, those who have it may pass it on to their children. It can be diagnosed prenatally by ultrasound or genetic testing. There is no specific treatment for achondroplasia, but treatment might be necessary if it leads to complications such as hydrocephalus (fluid collecting around the brain), obesity, or spinal stenosis (narrowing of the spinal canal).
There is no cure for achondroplasia, but it does not affect intellectual ability or life span. The Americans with Disabilities Act protects the rights of people with dwarfism, many members of the short-statured community don't feel that they have a disability.
All A to Z dictionary entries are regularly reviewed by KidsHealth medical experts.
|Genetic Science Learning Center (GSLC) GSLC is a joint project of the University of Utah Eccles Institute of Human Genetics and School of Medicine and the Utah Museum of Natural History, which helps people understand how genetics affect their lives and society.|
|National Society of Genetic Counselors This organization represents the genetic counseling profession through research, advocacy, and education.|
|Little People of America LPA is a nonprofit organization that provides support and information to people of short stature and their families.|
|Human Growth Foundation The Human Growth Foundation is a resource for kids and teens with growth problems.|
|Blount Disease Blount disease is a growth disorder that causes the bones of the lower leg to curve outward, making someone appear bowlegged.|
|Blount Disease Blount disease is a growth disorder that affects the bones of the lower leg, causing them to bow outward. The most obvious sign a person might have Blount disease is bowing of the leg below the knee.|
|Dwarfism A dwarf is a short-statured person whose adult height is 4 feet 10 inches or under. Find out what happens when a person has dwarfism and why some people are born with it.|
|Dwarfism Dwarfism is a condition that is characterized by short stature. Read more about dwarfism and those who have it.|
|Genetic Testing Advances in genetic testing have improved doctors' ability to diagnose and treat certain illnesses.|
|A to Z: Kyphosis, Congenital Learn more about congenital kyphosis, an abnormal rounding of the spine that develops before birth.|
|FAQs: Prenatal Tests Find out what tests are available to keep you informed of your -- and your baby's -- health throughout pregnancy.|
|A to Z: Pituitary Dwarfism Pituitary dwarfism is a condition in which the pituitary gland does not make enough growth hormone, resulting in a child's slow growth pattern and unusually small stature.|
|A to Z: Osteodystrophy Learn about complications of kidney and liver disease and conditions that affect bone development.|
|Kyphosis Your spine, or backbone, normally curves forward gently as it runs up your back. Sometimes, though, someone's back can be rounded too far forward, which is a condition known as kyphosis.|
|Kyphosis Everyone's spine is slightly rounded forward at a gentle angle. If this angle is too pronounced, more than 50 degrees or so, it's called kyphosis, also known as roundback or hunchback.|
|Back Problem: Kyphosis Your spine, or backbone, curves slightly forward as it runs up your back. For someone with kyphosis, the spine is curved too much, causing discomfort or trouble breathing.|
|Growth Problems In most cases, teens who are small are just physically maturing a bit more slowly than their friends. Occasionally, though, there's a medical reason why some kids and teens stop growing. Find out about growth problems and how doctors can help.|
|A to Z: Genu Valgum Learn about common childhood orthopedic conditions and conditions that affect the legs and knees.|
|All About Genetics Read the basics about genetics, including how certain illnesses, or increased risks for certain illnesses, pass from generation to generation.|
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