Question 1

help! what is achondroplasia?

Accepted Answer

A type of dwarfism: Achondroplasia is a type of dwarfism associated with shortened bones, large head and other findings. Most affected people have no family history (75-80%) and it is associated with paternal age (father of the baby) greater then 35.
Individuals who have achondroplasia carry the abnormal gene and have a 50% chance of having an affected child if one parent is affected and higher if both are affected.

Question 2

how common is achondroplasia?

Accepted Answer

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

Question 3

who knows about achondroplasia?

Accepted Answer

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.

Question 4

how is achondroplasia inherited?

Accepted Answer

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

Question 5

how can someone get achondroplasia.?

Accepted Answer

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

Question 6

what are the causes of achondroplasia?

Accepted Answer

New mutation: Most cases arise from a new mutation to normal parents.  It can also be transmitted in autosomal dominant fashion if parent (s) are affected by same condition.

Question 7

what are the tests for achondroplasia?

Accepted Answer

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.

Question 8

what sort of problem is achondroplasia?

Accepted Answer

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.

Question 9

who/what is achondroplasia named after?

Accepted Answer

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.

Question 10

how tall can someone with achondroplasia grow?

Accepted Answer

Ir depends: Growth and head circumference measurements plotted on growth curves standardized for achondroplasia. It can be different for individual cases, gender, genetics.

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Help! what is achondroplasia?

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How common is achondroplasia?

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How can someone get achondroplasia.?

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What are the causes of achondroplasia?

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What are the tests for achondroplasia?

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