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Doctor insights on: Achondroplasia

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Dr. Letha Mathews
75 doctors shared insights

Achondroplasia (Overview)

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 bowed or knock knees.


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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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Dr. Letha Mathews
75 doctors shared insights

Achondroplasia (Overview)

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 bowed or knock knees.


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What are the symptoms of achondroplasia?

Short stature: Short stature an average-size trunk. An enlarged head (macrocephaly) with a prominent forehead. Short fingers. The ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. Short arms and legs with particularly short upper arms and thighs. People with achondroplasia are generally of normal intelligence. ...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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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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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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(recombinant human growth hormone,rhgh) is one solution for achondroplasia treatment?

(recombinant human growth hormone,rhgh) is one solution for  achondroplasia treatment?

Short term effects: Some studies conclude that gh might be benefcial in the treatment of short stature in children with achondroplasia in the first 2 years of treatment. ...Read more

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What chromosomes cause the genetic disorder achondroplasia?

What chromosomes cause the genetic disorder achondroplasia?

FGFR3 gene: Achondroplasia is a mutation in the fibroblast growth factor receptor 3, which is an inhibitor that regulates bone growth. In cases of achondroplasia, the fgfr3 gene is too aggressive, negatively impacting bone growth. ...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?

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

See 2 more doctor answers