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How Common Is Achondroplasia
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
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
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 moreSee 1 more doctor 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. ...Read moreSee 1 more doctor answer
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