Copyright © Philip M. Parker, INSEAD. Terms of Use.
Definition: Achondroplasia |
AchondroplasiaNoun1. An inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism. Source: WordNet 1.7.1 Copyright © 2001 by Princeton University. All rights reserved. |
Synonyms: AchondroplasiaSynonyms: achondroplasty (n), chondrodystrophy (n), osteosclerosis congenita (n). (additional references) |
(From Wikipedia, the free Encyclopedia)
Achondroplasia is caused by a simple dominant gene. However, inheriting the achondroplasia gene from both parents will result in a stillborn child. In about 80% of cases, the condition results from a mutation in the offspring of two genetically normal parents.
New gene mutations are associated with increasing paternal age (over 35 years). Studies have demonstrated that new gene mutations are exclusively inherited from the father and occur during spermatogenesis (as opposed to resulting from a germline mosaicism).
See also: List of rare diseases
Growth hormone (GH) therapy has been proposed as a possible treatment for the short stature of achondroplasia. However, the people who participated in the studies on the subject have not yet reached adult size, so this type of therapy has unknown results. Early experience with surgical limb lengthening procedures resulted in a high incidence of complications, but recent experiences have improved results considerably.
For the genetic details: More than 99% of achondroplasia is caused by two different mutations in the fibroblast growth factor receptor 3 (FGFR3). In about 98% of cases, the mutation is a Gly380Arg substitution, resulting from a G to A point mutation at nucleotide 1138 of the FGFR3 gene [Bellus et al 1995, Shiang et al 1994, Rousseau et al 1996]. About 1% of cases are caused by a G to C point mutation at nucleotide 1138.
Source: adapted by the editor from Wikipedia, the free encyclopedia under a copyleft GNU Free Documentation License (GFDL) from the article "Achondroplasia."
Crosswords: Achondroplasia |
| English words defined with "achondroplasia": achondroplastic. (references) |
| The following statistics estimate the number of searches per day across the major English-language search engines as identified by various trade publications. Hyperlinks lead to commercial use of the expression at Amazon.com. |
| Expression | Frequency per Day |
achondroplasia | 143 |
achondroplasia picture | 10 |
achondroplasia dwarfism | 6 |
achondroplasia people picture | 5 |
achondroplasia infant picture | 3 |
| Source: compiled by the editor from various references; see credits. | |
| Language | Translations for "achondroplasia"; alternative meanings/domain in parentheses. | ||||||||||||||||
Danish | achondroplasi (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), achondrodysplasi (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), chondrodystrophia foetalis (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets). (various references) | ||||||||||||||||
French | achondroplasie (achondrodysplasia), achondrodysplasie (achondrodysplasia), rachitisme foetal (achondrodysplasia), maladie de Parrot (achondrodysplasia), chondrodystrophie foetale de Kaufmann (achondrodysplasia). (various references) | ||||||||||||||||
German | Achondroplasie (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), Achondrodysplasie (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), Parrot-Kaufmann Krankheit (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), Parrot Syndrom (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), Osteosclerosis congenita (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), Osteochondrodystrophia fetalis (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), fetale Rachitis (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), chondromalazische Mikromelie (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), Chondrogenesis imperfecta (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), Chondrodystrophia fetalis Kaufmann (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), Chondrodystrophia fetalis (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), Chondrodysplasia fetalis Gruber-Grebe (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), Chondrodysplasia fetalis (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets). (various references) | ||||||||||||||||
Italian | acandroplasia (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets). (various references) | ||||||||||||||||
Pig Latin | achondroplasiaay acondroplasia (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), acondrodisplasia (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), raquitismo fetal (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets), condrodistrofia fetal de Kaufmann (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets). (various references) acondroplasia (achondrodysplasia, fetal rachitis, fetal rickets, foetal chondrodystrophy, foetal rachitis, foetal rickets). (various references) | ||||||||||||||||
Derivations | |
Words beginning with "achondroplasia": achondroplasias. (additional references) | |
| Source: compiled by the editor, based on several corpora (additional references). | |
Scrabble® Enable2K-Verified Anagrams | |
| Words within the letters "a-a-a-c-d-h-i-l-n-o-o-p-r-s" | |
-3 letters: rhapsodical. | |
-4 letters: arachnoids, drosophila, isochronal, paranoiacs, paranoidal, prosodical. | |
-5 letters: acaridans, acropolis, anaphasic, anaphoras, anaphoric, arachnids, arachnoid, arcadians, caparison, cardinals, chaldrons, chaplains, chilopods, chlordans, choroidal, croplands, doornails, dropsical, handclasp, handicaps, handrails, holandric, ironclads, oolachans, paradisal, paranoiac, paranoias, paranoics, paranoids, parochial, pharaonic, phoronids, picaroons, pilchards, planarias, rhapsodic, rhodopsin. | |
| Words containing the letters "a-a-a-c-d-h-i-l-n-o-o-p-r-s" | |
+1 letter: achondroplasias. | |
| Source: compiled by the editor from various references; see credits. SCRABBLE® is a registered trademark. All intellectual property rights in and to the game are owned in the U.S.A and Canada by Hasbro Inc., and throughout the rest of the world by J.W. Spear & Sons Limited of Maidenhead, Berkshire, England, a subsidiary of Mattel Inc. Mattel and Spear are not affiliated with Hasbro. | |
Hexadecimal (or equivalents, 770AD-1900s) (references)41 63 68 6F 6E 64 72 6F 70 6C 61 73 69 61 |
| Leonardo da Vinci (1452-1519; backwards) (references)
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| American Sign Language (origins from 1620-1817 in Italy and, especially, France) (references)
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| Semaphore (1791, in France) (references)
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| Braille (1829, in France) (references)
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Morse Code (1836) (references).- -.-. .... --- -. -.. .-. --- .--. .-.. .- ... .. .- |
| Dancing Men (Sir Arthur Conan Doyle, 1903) (references)
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Binary Code (1918-1938, probably earlier) (references)01000001 01100011 01101000 01101111 01101110 01100100 01110010 01101111 01110000 01101100 01100001 01110011 01101001 01100001 |
HTML Code (1990) (references)A c h o n d r o p l a s i a |
ISO 10646 (1991-1993) (references)0041 0063 0068 006F 006E 0064 0072 006F 0070 006C 0061 0073 0069 0061 |
| British Sign Language (Fingerspelling, BSL; 1992, British Deaf Association Dictionary of British Sign Language) (references)
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Encryption (beginner's substitution cypher): (references)3569748180708481827867857567 |
| 1. Definition 2. Synonyms 3. Crosswords 4. Expressions: Internet | 5. Translations: Modern 6. Derivations 7. Anagrams 8. Orthography | 9. Bibliography |
Copyright © Philip M. Parker, INSEAD. Terms of Use.
