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Doctor insights on: How Common Is Achondroplasia

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How common is achondroplasia?

How common is achondroplasia?

1:25000: The prevalence is approximately 1 in 25, 000. It is a common cause of dwarfism however. ...Read more

Dr. Letha Mathews
75 doctors shared insights

Achondroplasia (Definition)

that is caused by a mutation affecting fibroblast growth factor and results in shortened bones. It is one of the major causes of dysproporotinate dwarfism. The mutation can be spontaneous, especially in advanced paternal age, or inherited as an autosomal dominant. It especially affects the proximal limb bones, prominent forehead, increased lordosis or kyphosis and either ...Read more


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What is achondroplasia?

Achondroplasia: Birth defect that affects bone growth, leading to Dwarfism. ...Read more

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Help! what is achondroplasia?

Help! what is achondroplasia?

Let me help you: Achondroplastic dwarfs have short stature, with an average adult height of 131 cm (4 feet, 3½ inches) for males and 123 cm (4 feet, ½ inch) for females. The prevalence is approximately 1 in 25, 000. ...Read more

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Who knows about achondroplasia?

Dwarfism: About 1 in 20, 000 births. Genetic defect causes poor bone growth. Affected persons have a large head with small bones in the mid face. The arms and legs are short, but the trunk is long. Intelligence is usually normal, but walking is often delayed. They can have problems with the spinal cord being compressed. They can have children, but there is a high risk >50% of passing the defect to offspring. ...Read more

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How is achondroplasia inherited?

Autosomal dominant: Achondroplasia is inherited in autosomal dominant fashion. Increased incidence has been observed in offsprings from fathers of advanced age. ...Read more

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How can someone get achondroplasia.?

Achondroplasia: This is a genetic condition and can not be acquired. One is born with achondroplasia. ...Read more

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What are the tests for achondroplasia?

What are the tests for achondroplasia?

Dwarfism.: It occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder. Achondroplasia can be detected before birth by the use of prenatal ultrasound. A dna test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited. Also we could use radiology findings. ...Read more

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What are the causes of achondroplasia?

What are the causes of achondroplasia?

Mostly random: Most cases arise from a new mutation to normal parents. Achondroplasia is inherited in autosomal dominant fashion as well. Therefore, couples with achondroplasia marries, they have a 25% risk of transmitting their condition , homozygous achondroplasia , to each offspring. ...Read more

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What sort of problem is achondroplasia?

Dwarfism: Achondroplasia, is a birth defect resulting in dwarfism. Dwarfs, or little people have this birth defect. It results from a chromosome problem. Those born with this defect can have multiple problems including difficulty breathing, this can be serious and certain types can be fatal. ...Read more

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Who/what is achondroplasia named after?

Words: Achondroplasia is just a descriptive term.The plasia refers to growth, chondro to the basic cells the build the precursors of bone and "a" to signify without or abnormality of.These are word building blocks from the greek language. ...Read more