achondroplasia

noun

achon·​dro·​pla·​sia ˌā-ˌkän-drə-ˈplā-zh(ē-)ə 

: a genetic disorder that is marked by abnormally slow conversion of cartilage to bone during development resulting in a form of dwarfism characterized by a usually normal torso and shortened limbs and that is usually inherited as an autosomal dominant trait

achondroplastic

ˌā-ˌkän-drə-ˈpla-stik 

adjective

Examples of achondroplasia in a Sentence

Recent Examples on the Web

On Tuesday's episode of Little People, Big World, Tori Roloff opened up about how learning of baby Lilah's achondroplasia. —Amanda Garrity, Good Housekeeping, 8 Apr. 2020

As a person with achondroplasia, the most common form of dwarfism, dating can be kind of tough when a lot of people are looking for that six-foot-four guy. —Taylor Lorenz, New York Times, 18 Mar. 2020

Vosoritide is a daily injection meant to counteract the genetic mutation that causes achondroplasia. —Damian Garde, STAT, 16 Dec. 2019

Bayles was born with achondroplasia, a genetic order that results in dwarfism. —NBC News, 21 Feb. 2020

And Joss’s story is consistent with voices of the disability community such as Rebecca Cokley, who has explained how her experience with achondroplasia, the most common form of dwarfism, offers her advantages. —Washington Post, 17 Jan. 2020

Sherri has spinal stenosis and achondroplasia, a form of short-limbed dwarfism, and has faced a variety of other health challenges throughout her life. —Rita Price, Cincinnati.com, 13 Jan. 2020

The company, BioMarin, enrolled 121 children with achondroplasia, the most common cause of dwarfism. —Damian Garde, STAT, 16 Dec. 2019

Furthermore, about 80% of babies with achondroplasia are born to parents of average height. —Damian Garde, STAT, 18 Nov. 2019

Word History

Etymology

borrowed from French achondroplasie, from a- a- entry 2 + chondro- chondro- + -plasie -plasia

First Known Use

1881, in the meaning defined above

Medical Definition

achondroplasia

noun

achon·​dro·​pla·​sia ˌā-ˌkän-drə-ˈplā-zh(ē-)ə 

: a genetic disorder that is marked by abnormally slow conversion of cartilage to bone during development and results in a form of dwarfism characterized by a usually normal torso and shortened limbs

Note: Achondroplasia is usually 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. The majority of cases of achondroplasia result from a new spontaneous gene mutation.

compare ateliosis