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Doctor insights on: Is It Normal To Achondroplasia

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If a man with achondroplasia and a normal woman children, what is the likelihood of having dwarfs?

If a man with achondroplasia and a normal woman children, what is the likelihood of having dwarfs?

50%: If one parent has achondroplasia, a child has a 50 percent chance of inheriting the fgfr3 gene and subsequently developing achondroplasia. If both parents have the disorder, the child has a three in four (75 percent) chance of developing achondroplasia. Also, in these cases, the child has a one in four chance of inheriting the gene from both parents. Newborns who inherit both genes are considered. ...Read more

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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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Can normal size parents have a child with achondroplasia?

Can normal size  parents have a child with achondroplasia?

Yes: An estimated 90% of cases represent new mutations & the child is born to normal parents. ...Read more

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Have one girl 6 yrs,normal, aborted in boy 20 weeks, thanataphoric achondroplasia, I read it is gene mutation, how much risk of recurrence,possiblity?

No difference: Sorry to hear that. Risk of recurrence for parents who have had one affected child is not significantly increased over that of the general population. http://www.ncbi.nlm.nih.gov/books/NBK1366/ ...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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How common is achondroplasia?

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