The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. From Genetics Home Reference. Description Achondroplasia is a form of short-limbed dwarfism.
Frequency Achondroplasia is the most common type of short-limbed dwarfism. Inheritance Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Research Studies from ClinicalTrials. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism.
Rev Endocr Metab Disord. Recent milestones in achondroplasia research. Am J Med Genet A. Achondroplasia: pathogenesis and implications for future treatment. It makes your arms and legs short in comparison to your head and trunk.
You may also have a larger head and weak muscle tone. Other genetic conditions, kidney disease, and problems with metabolism or hormones can also cause dwarfism. The conditions that cause dwarfism can also cause other health problems. Most of them are treatable. It is important to have regular checkups throughout your life. With proper medical care, most people with dwarfism have active lives and live as long as other people.
Dwarfism is generally defined as an adult height of 4 feet 10 inches centimeters or less. The average adult height among people with dwarfism is 4 feet cm.
Many different medical conditions cause dwarfism. In general, the disorders are divided into two broad categories:. Some people prefer the term "short stature" or "little people" rather than "dwarf" or "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. Back to Health A to Z. Restricted growth, sometimes known as dwarfism, is a condition characterised by unusually short height. As well as being short, some people with restricted growth also have other physical problems, such as bowed legs or an unusually curved spine.
But most people don't have any other serious problems and are able to live a relatively normal life, with a normal life expectancy. Read more about the symptoms of restricted growth. 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.
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