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Achondroplasia is caused by a mutation of the fibroblast growth factor receptor 3 (FGFR3) gene.
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∙ 10y ago
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What is the heredity cause for achondroplasia?
Mutations in the FGFR3 gene are the cause for achondroplasia (short-limbed dwarfism).
How is achondroplasia diagnosed?
whats the name of the test that diagnoses achondroplasia
If a couple with normal phenotypes get married and have a child then what is the chance that the child will develope achondroplasia?
People with achondroplasia can be born to parents who don't have the condition. This is the result of a new mutations. New gene mutations leading to achondroplasia are associated with the paternal age effect (over 35 years old). Studies have demonstrated that new gene mutations for achondroplasia are exclusively inherited from the father and occur during spermatogenesis.
How can you get Achondroplasia?
Achondroplasia, or Dwarfism, is a genetic disorder, both handed down and mutagenic. Quoted from Wikipedia: "Achondroplasia is a result of an autosomal dominant mutation in the fibroplast growth receptor gene 3 (FGFR3), which causes an abnormality of catilage formation."
What the age of onset for achondroplasia?
Achondroplasia, is the mutation in the FGFR3 gene that is responsible for turning cartilage into bone. It is noticed through child development due to shortness for their age and other skeletal problems throughout life
When was achondroplasia discovered?
In 1994 Dr. John Wasmuth and his colleagues discovered that a mutation of the fibroblast growth factor receptor-3 (FGFR3) gene on human chromosome 4 causes achondroplasia.
Can achondroplasia be passed on to offspring?
Yes. Most cases of achondroplasia are associated with a dominant mutant form of the FGFR3 gene. Thus, if someone with achondroplasia has children with a person without achondroplasia, 50% of the offspring would be predicted to inherit the disorder. If two people with achondroplasia were to have children, 50% would inherit acondroplasia (i.e. would be heterozygous for the mutant FGFR3 allele), 25% would be normal, and 25% would inherit two copies of the mutant FGFR3 allele, a condition which is almost certainly lethal.
What is achondroplasia?
Achondroplasia is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features with frontal bossing and mid-face hypoplasia.
What type of inheritance is achondroplasia?
Achondroplasia is inherited by the parents as a dominant disease. It occurs from a defect in the FGFR3 gene. It usually occurs spontaneously. if both parents have the disease they have a 25% chance of having a normal sized child, a 50% chance of having a child with Achondroplasia, and a 25% chance of the child getting both genes from each parent which results in death.
Where did the name achondroplasia originate from?
It come from the greek meaning of "without cartilage formation"
How much is medicines or hospitals for people with achondroplasia?
There are no medications for achondroplasia
Where does the word achondroplasia originate from?
Achondroplasia comes from the Greek word khondros(meaning "cartilage") and the Greek word plasis (meaning "moulding"). This is a befitting name for the disease as achondroplasia is a hereditary condition where the growth of cartilage in the long bones and skull is stunted, causing the bones to fuse too soon.
