Achondrogenesis
Inheritance
How is achondrogenesis inherited?
Achondrogenesis types 1A and 1B are inherited in an autosomal recessive manner. Both parents are unaffected carriers of a genetic change and have a 1 in 4 or 25% chance of having an affected child. Achondrogenesis type 2 is inherited in an autosomal dominant manner and only one copy of the gene needs to be abnormal in order to be affected with the condition. Due to the lethality of achondrogenesis type 2 is it always a new mutation.
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What forms of achondrogenesis are cause by a genetic change?
What mutations cause androgenesis type 1B?
What forms of achondrogenesis are cause by a genetic change?
There are no forms of achondrogenesis that are not found to have a genetic change in one of these three genes.
What mutations cause androgenesis type 1B?
In achondrogenesis type 1B there are 4 mutations that have been seen in a number of affected individuals. Other variants seem to cause related disorders.
