Doctor insights on:
Is It Normal To Achondroplasia
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 moreSee 1 more doctor answer
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
Yes: An estimated 90% of cases represent new mutations & the child is born to normal parents. ...Read more
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
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
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