achondrogenesis

noun

achon·​dro·​gen·​e·​sis ˌā-ˌkän-drə-ˈje-nə-səs How to pronounce achondrogenesis (audio)
: 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

Note: 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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Cite this Entry

“Achondrogenesis.” Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/medical/achondrogenesis. Accessed 29 Nov. 2022.

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