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Is achondroplasia lethal

Updated: 4/28/2022
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10y ago

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No, achondroplasia by itself is not fatal, however there are some life threatening complications that can arise from abormal bone growth like hydrocephalus (an abnormal cerebrospinal fluid leak into the brain) which if not detected and left untreated can be fatal.

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Q: Is achondroplasia lethal
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Related questions

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.


Is achondroplasia sex linked or autosomal?

It's an autosomal dominant disease. Source: http://en.wikipedia.org/wiki/Achondroplasia


How much is medicines or hospitals for people with achondroplasia?

There are no medications for achondroplasia


How is achondroplasia diagnosed?

whats the name of the test that diagnoses achondroplasia


Do Ellie Simmonds parents have achondroplasia?

no Ellie Simmonds parents has not got achondroplasia


Is achondroplasi a sex linked trait?

Achondroplasia is not sex linked in humans. Heterozygous individuals have a reduced long bone growth phase with early closure of the growth plates. Two alleles for achondroplasia are generally lethal because in addition to decreased long bone growth, the rib cage cartilage is modified and the affected baby cannot breathe effectively.


Is achondroplasia hereditary?

yes, achondroplasia is hereditary and if one of a parent has it you have 50% chance to inheriting it.


Is there a cure for achondroplasia?

No


Is anyone looking for a cure for achondroplasia?

Yes ,we are looking for a cure for achondroplasia. Please help! Amita


What is the heredity cause for achondroplasia?

Mutations in the FGFR3 gene are the cause for achondroplasia (short-limbed dwarfism).


What is the name of the gene for Achondroplasia?

Achondroplasia is caused by a mutation of the fibroblast growth factor receptor 3 (FGFR3) gene.


Can you get achondroplasia with out having a parent that has it?

Yes People with achondroplasia can be born to parents that do not have the condition. This is the result of a new mutation.[2]