Medical Dictionary

achondrogenesis

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noun achon·dro·gen·e·sis \ˌā-ˌkän-drə-ˈje-nə-səs\

Medical Definition of achondrogenesis

  1. :  a rare disorder of bone and cartilage development in the fetus that is characterized by marked shortening of the limbs with a relatively large head and a short trunk Infants affected with achondrogenesis typically are stillborn or die shortly after birth. One form of achondrogenesis is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. A second form, arising as a spontaneous mutation, is inherited as an autosomal dominant trait requiring that only one parent passes on a copy of the defective gene on a chromosome other than a sex chromosome.


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