achondroplasia


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a·chon·dro·pla·sia

 (ā-kŏn′drō-plā′zhə)
n.
Improper development of cartilage at the ends of the long bones, resulting in a form of congenital dwarfism.

a·chon′dro·plas′tic (-plăs′tĭk) adj.
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

achondroplasia

(eɪˌkɒndrəʊˈpleɪzɪə)
n
(Pathology) a skeletal disorder, characterized by failure of normal conversion of cartilage into bone, that begins during fetal life and results in dwarfism
[C20: New Latin; see a-1, chondro-, -plasia]
achondroplastic adj
Collins English Dictionary – Complete and Unabridged, 12th Edition 2014 © HarperCollins Publishers 1991, 1994, 1998, 2000, 2003, 2006, 2007, 2009, 2011, 2014

a•chon•dro•pla•sia

(eɪˌkɒn drəˈpleɪ ʒə, -ʒi ə)

n.
a defect of fetal bone development, resulting in a type of dwarfism characterized by a large head and short limbs.
[1890–95; a-6 + Greek chóndro(s) cartilage + -plasia]
a•chon`dro•plas′tic (-ˈplæs tɪk) adj.
Random House Kernerman Webster's College Dictionary, © 2010 K Dictionaries Ltd. Copyright 2005, 1997, 1991 by Random House, Inc. All rights reserved.

achondroplasia

An inherited condition resulting in short stature. There is defective cartilage growth and defective ability to form bones.
Dictionary of Unfamiliar Words by Diagram Group Copyright © 2008 by Diagram Visual Information Limited
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.achondroplasia - an inherited skeletal disorder beginning before birthachondroplasia - an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
Translations
Achondroplasie
achondroplasie

a·chon·dro·pla·si·a

[MIM*100800 *134934]
n. acondroplasia, deformidad ósea de nacimiento; enanismo.
English-Spanish Medical Dictionary © Farlex 2012

achondroplasia

n acondroplasia
English-Spanish/Spanish-English Medical Dictionary Copyright © 2006 by The McGraw-Hill Companies, Inc. All rights reserved.
References in periodicals archive ?
ACHONDROPLASIA: A male patient 45 years of age with short stature reported for the complaint of stunted growth and difficulty of using his left hand.
"I am just an ordinary Sri Lankan girl who has achondroplasia, but I love my life.
ALASTAIR and Claire McLean remember the emotions they felt when son Hamish was born with achondroplasia, or dwarfism as it's better known.
* Vosoritide for children with achondroplasia: On June 18, 2019, the New England Journal of Medicinepublished the 42 month results from the Phase 2 study with vosoritide in children ages 5 to 14 years.
Ascendis Pharma announced the filing of an investigational new drug, or IND, application with the FDA to initiate the ACcomplisH Trial, a global phase 2 trial designed to evaluate the safety and efficacy of TransCon CNP in children with achondroplasia. TransCon CNP is a long-acting prodrug of C-type natriuretic peptide, or CNP, in development for children with achondroplasia.
TA-46 is an investigational medicine for the treatment of achondroplasia, a genetic condition and the most common form of short-limb dwarfism.
Release date- 18062019 - Researchers at Johns Hopkins Medicine, the Murdoch Children's Research Institute in Australia and seven other medical institutions report that an experimental drug called vosoritide, which interferes with certain proteins that block bone growth, allowed the average annual growth rate to increase in a study of 35 children and teenagers with achondroplasia, a form of dwarfism.
And to top it off Nevaeh, who has a form of dwarfism called Achondroplasia, met Paralympic legend Ellie Simmonds at the event.
United States-based Pfizer has signed a definitive agreement to acquire all the shares of Therachon Holding AG, a privately-held clinical-stage biotechnology company focused on rare diseases, with assets in development for the treatment of achondroplasia and short bowel syndrome, it was reported yesterday.
Under the terms of the agreement, Pfizer will acquire Therachon for USD 340m upfront with an additional USD 470m in additional payments contingent on the achievement of key milestones in the development and commercialisation of TA-46 for the treatment of achondroplasia, a genetic condition and the most common form of short-limbed dwarfism.
The literature data on the use of growth hormone in skeletal dysplasias are scarce except for in achondroplasia, and usually short-term treatment results have been reported (9).
(7) Infantile Tay-Sachs disease, for example, uncontroversially reduces well-being, while many have argued that deafness and achondroplasia (the most common type of dwarfism) do not reduce well-being at all.