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Permission

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Discussion and verification of permission is archived at Talk:Jumper's Knee. Melchoir 23:42, 17 April 2006 (UTC)[reply]

Untitled

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Achondroplasia is just a technical name for Dwarfism

No, it's not; it just one of many possible causes of dwarfism.--Prosfilaes 14:39, 6 April 2006 (UTC)[reply]

Removed vandalism- March 8, 2012.

Wiki Education Foundation-supported course assignment

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This article is or was the subject of a Wiki Education Foundation-supported course assignment. Further details are available on the course page. Student editor(s): Klshetler. Peer reviewers: Rlstatton.

Above undated message substituted from Template:Dashboard.wikiedu.org assignment by PrimeBOT (talk) 13:20, 16 January 2022 (UTC)[reply]

"Disease" and "disorder" versus "Achondroplasia"

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PEGGY JEAN CASTILLO —Preceding unsigned comment added by 216.146.100.31 (talk) 20:02, 5 December 2007 (UTC)[reply]

There is a lot of debate going on as to what achondroplasia is(ie a medical condition, disorder, disease, disability, or none of the above). Because of that, I think it's a better idea just to call achondroplasia achondroplasia to prevent the article being POV. --Umalee 22:21, 31 March 2007 (UTC)[reply]

World's Smallest Girl

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As reported by reputable news agency Fox News, the world's smallest girl as confirmed by the Guiness Book of World records, happens to have Achondroplasia.

[1] —Preceding unsigned comment added by ApsbaMd2 (talk • contribs) 20:50, 9 April 2008 (UTC)[reply]

ApsbaMd2 (talk) 20:52, 9 April 2008 (UTC)[reply]

Its true thats what the Fox News site says, but its incorrect. I am a doctor specialising in Achondroplasia and this person must have something else, probably primordial dwarfism. Zankl (talk) 11:38, 17 November 2017 (UTC)[reply]

Pictures

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Somebody should put some pictures up. defintly

In other species?

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I'd like to see some more on this article - namely, it's achondroplasia in other species: it's what makes dachshunds, corgis, and basset hounds (along with other breeds) long bodied with short legs. I've also seen examples of it in horses and other domesticated animals. 74.211.92.37 (talk) 23:56, 9 June 2010 (UTC)[reply]

lifted from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1189626/pdf/cjvetres00008-0053.pdf
"Based on their disproportionate dwarfism, some dog breeds traditionally have been classified as "achondroplastic." This is the case for the dachshund, basset hound, and bulldog breeds, to mention a few (4,5). Histological studies in some achondroplastic dog breeds have shown altered cell patterns in cartilage that are very similar to those observed in humans exhibiting achondroplasia (6)."


references:
  • 4. Jones T, Hunt R. The musculoskeletal system: In: Jones T, Hunt R, eds. Veterinary Pathology, 5th ed. Philadelphia: Lea & Febiger; 1979:1175-1176.
  • 5. Willis MB. Inheritance of specific skeletal and structural defects. In: Willis MB, eds. Genetics of the Dog. 1st ed. Great Britain: Howell Book House; 1989:119-120.
  • 6. Braund K, Ghosh P. Morphological studies of the canine intervertebral disc. The assignment of the beagle to the achondroplastic classification. Res Vet Sci 1975;19:167-172
I'm busy on dog articles, I may get around to researching other species. Gmip (talk) 11:11, 16 October 2011 (UTC)[reply]
Added some dog info regarding the cool retrogene.TomHaffie (talk) 01:46, 7 February 2012 (UTC)[reply]
Ive added a reference to the much-fabled Ancon sheep, with reference and link. Please note that before this change the Ancon article was an orphan. So if you remove my work here you will need to recheck the Ancon article's link status and add the orphan tag again if appropriate. Thanks! Jaydubya93 (talk) 20:14, 7 March 2014 (UTC)[reply]

Incidence of orthopedic disability?

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Aside from short stature, I wonder if and to what extent achondroplasia is accompanied by orthopedic problems, such as commonly occur in diastrophic dysplasia? These do cause disability, and if they are common in achondroplasia, that might affect the debate above about terminology. Also, if disabilities are common, the incidence (or absence of disability, if not?) would be useful to mention in the article. Wwheaton (talk) 00:40, 18 August 2010 (UTC)[reply]

In animals, associated health issues are both severe and common (arthritis, for ex). Unfortunately I am completely unversed in related study in humans, so I would be disinclined to make these kind of changes (animal issues while perhaps pertinent would be unbalanced without accompanying human data given the structure of the article IMO). If someone has human data I can add animal data tho. Jaydubya93 (talk) 20:20, 7 March 2014 (UTC)[reply]

Why does "chondrodystrophia" redirect here?

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The term is not used or explained in the article. 86.159.197.174 (talk) 00:13, 22 August 2014 (UTC)[reply]

Contradiction in Treatment section?

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Second paragraph: "human growth hormone does not help people with achondroplasia" then in the third: "Usually, the best results appear within the first and second year of therapy."

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Head and torso are off normal proportion. Head is not large according to some sources. GenacGenac (talk) 00:11, 23 September 2021 (UTC)[reply]

COI edit requests

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Hi, I’m a COI editor for BioMarin Pharmaceutical, the manufacturer of a treatment for achondroplasia. Requesting some updates to this article:

  • In the infobox, add genetics as a risk factor, per the article lead and body.
  • In the second paragraph of the lead, after
Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that results in its protein being overactive.[1]
add:
Achondroplasia results in impaired endochrondral bone growth (bone growth within cartilage).[2]
  • Also in second paragraph of lead, for clarity, update
About 80% of cases result from a new mutation, which originates in the father's sperm.[3]
to
About 80% of cases occur in children of parents of average stature and result from a new mutation, which most commonly originates as a spontaneous change during spermatogenesis.[3]
  • In the third paragraph of the lead, update
Treatments may include support groups and growth hormone therapy.[3]
to
Treatments may include support groups and growth hormone therapy[3] (approved in Japan[4]).
  • In "Complications", add:
The life expectancy of people with achondroplasia is approximately 10 years less than average.[3] Factors in this reduced life expectancy include higher heart disease-related mortality.[5]
(This is already in the article lead; just incorporating it into the article body with additional context/detail.)
  • Add to the "Adults" subsection of "Complications":
Some research has found that adults with achondroplasia may also experience psychosocial complications, usually associated with short stature.[6][7] Children and adults with achondroplasia may also experience psychosocial consequences.[8]
  •  Partly done. I did not add the second sentence as it cites a primary source. I also don't think it's an accurate representation of the source, which concludes "Although the children with achondroplasia experienced more short stature-related stressors, there was no evidence of any psychosocial maladaptation." Spicy (talk) 05:11, 15 July 2022 (UTC)[reply]
  • In second paragraph of "Causes", update
People with achondroplasia can be born to parents that do not have the condition due to spontaneous mutation.[9]
to
People with achondroplasia are often born to parents that do not have the condition due to spontaneous mutation.[9]
Update "can be" to "are often" since spontaneous mutation accounts for 80% of cases.
  • Add to beginning of "Diagnosis":
Postnatal diagnosis of achondroplasia is typically uncomplicated, involving an assessment of physical features (like macrocephaly and rhizomelic shortening of limbs) and radiographic features.[10]
  • In "Diagnosis", update
Achondroplasia can be detected before birth by prenatal ultrasound.
to
Achondroplasia can be detected before birth by prenatal ultrasound, although signs are often subtle and not apparent before the 24th week of pregnancy.[11]
  • At the end of "Radiologic findings", add a citation to the final sentence:
Another distinct characteristic of the syndrome is thoracolumbar gibbus in infancy.[12]
First up – thanks for handling these requests! Second – I do not; this is the closest source I could find to align with the current article text. Perhaps it would be better to update "distinct" to "common"? Mary Gaulke (talk) 03:24, 20 July 2022 (UTC)[reply]
 Done with the wording change as suggested. Spicy (talk) 17:45, 20 July 2022 (UTC)[reply]
  • Add to end of first paragraph of "Treatment":
As of December 2020, the treatment of achondroplasia with human growth hormone was approved only in Japan.[4]
  • Add to end of third paragraph of "Treatment":
Little medical consensus exists around limb lengthening as a treatment for achondroplasia; it is recommend in some countries and not in others. The age of surgery can also vary from early childhood to adulthood.[13]
  •  Partly done I rephrased this a bit for clarity and removed "it is recommended in some countries and not in others" as it's somewhat redundant to the preceding sentence and, IMO, too closely paraphrased from the source text. Spicy (talk) 05:11, 15 July 2022 (UTC)[reply]
  • Add to end of "Treatment":
Research has also shown that introducing parents of children with achondroplasia to support and advocacy groups at the time of diagnosis can improve outcomes.[14] Several patient advocacy groups exist to support people with achondroplasia and their families.[15]
  • Add to end of "Epidemiology":
A 2020 review and meta-analysis estimated a worldwide prevalence of 4.6 per 100,000.[16]

Thanks for your time and feedback! Mary Gaulke (talk) 00:37, 21 June 2022 (UTC)[reply]

Reviewing. TrangaBellam (talk) 07:22, 27 June 2022 (UTC)[reply]
@TrangaBellam: Hi! Just checking if you're still interested in reviewing this. Thanks! Mary Gaulke (talk) 21:02, 12 July 2022 (UTC)[reply]
I've responded to this after seeing MaryGaulke's post at WikiProject Medicine. In the interest of transparency, and in case anyone is curious why someone would be paying for these edits (I was): BioMarin manufactures vosoritide, a drug intended to increase stature in children with achondroplasia. Some of these edits emphasize the negative effects of short stature and the current lack of effective treatments, which I suppose is where the possible bias comes in. However, the statements that I've added are supported by WP:MEDRS compliant sources. The authors of some of these sources have a declared conflict of interest with BioMarin, but comparing to other sources such as [2] or [3], I don't get the impression that these claims are controversial. Other input is welcome. Spicy (talk) 05:11, 15 July 2022 (UTC)[reply]

References

  1. ^ Cite error: The named reference GHR2012 was invoked but never defined (see the help page).
  2. ^ Savarirayan, Ravi; Irving, Melita; Bacino, Carlos A.; Bostwick, Bret; Charrow, Joel; Cormier-Daire, Valerie; Le Quan Sang, Kim-Hanh; Dickson, Patricia; Harmatz, Paul; Phillips, John; Owen, Natalie; Cherukuri, Anu; Jayaram, Kala; Jeha, George S.; Larimore, Kevin; Chan, Ming-Liang; Huntsman Labed, Alice; Day, Jonathan; Hoover-Fong, Julie (2019). "C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia". New England Journal of Medicine. 381 (1): 25–35. doi:10.1056/NEJMoa1813446. PMID 31269546. S2CID 195796501.
  3. ^ a b c d e Cite error: The named reference Pau2012 was invoked but never defined (see the help page).
  4. ^ a b Legeai-Mallet, Laurence; Savarirayan, Ravi (2020). "Novel therapeutic approaches for the treatment of achondroplasia". Bone. 141: 115579. doi:10.1016/j.bone.2020.115579. PMID 32795681. S2CID 221133224. One therapy offered to ACH patients is treatment with recombinant human growth (r-hGH) (approved today only in Japan).
  5. ^ Wynn, Julia; King, Terri M.; Gambello, Michael J.; Waller, D. Kim; Hecht, Jacqueline T. (2007). "Mortality in achondroplasia study: A 42-year follow-up". American Journal of Medical Genetics Part A. 143A (21): 2502–2511. doi:10.1002/ajmg.a.31919. PMID 17879967. S2CID 25933218.
  6. ^ Pauli, Richard M. (2019). "Achondroplasia: A comprehensive clinical review". Orphanet Journal of Rare Diseases. 14 (1): 1. doi:10.1186/s13023-018-0972-6. PMC 6318916. PMID 30606190.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  7. ^ Constantinides, Constantinos; Landis, Sarah H.; Jarrett, James; Quinn, Jennifer; Ireland, Penelope J. (2021). "Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: A targeted literature review". Disability and Rehabilitation: 1–13. doi:10.1080/09638288.2021.1963853. PMID 34403286. S2CID 237198129.
  8. ^ Nishimura, Naoko; Hanaki, Keiichi (2014). "Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: A nationwide survey in Japan" (PDF). Journal of Clinical Nursing. 23 (21–22): 3045–3056. doi:10.1111/jocn.12531. PMID 25453127.
  9. ^ a b Richette P, Bardin T, Stheneur C (2007). "Achondroplasia: From genotype to phenotype". Joint Bone Spine. 75 (2): 125–30. doi:10.1016/j.jbspin.2007.06.007. PMID 17950653.
  10. ^ Savarirayan, Ravi; et al. (2021). "International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia". Nature Reviews Endocrinology. doi:10.1038/s41574-021-00595-x. PMID 34837063. S2CID 244638495. The postnatal diagnosis of achondroplasia is fairly straightforward. A combination of key clinical (that is, macrocephaly, short limbed-short stature with rhizomelia and redundant skin folds) and radiographic (that is, characteristic pelvis with short and square ilia, narrow sacro-sciatic notches and narrowing interpedicular distances in the lumbar vertebral spine progressing from L1 to L5) features enables accurate diagnosis in most people with achondroplasia.
  11. ^ Savarirayan, Ravi; et al. (2021). "International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia". Nature Reviews Endocrinology. doi:10.1038/s41574-021-00595-x. PMID 34837063. S2CID 244638495. Ultrasound findings of achondroplasia are generally not apparent until 24 weeks of gestation and are often quite subtle.
  12. ^ Savarirayan, Ravi; et al. (2021). "International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia". Nature Reviews Endocrinology. doi:10.1038/s41574-021-00595-x. PMID 34837063. S2CID 244638495. Spinal thoracolumbar kyphosis (gibbus) in infants with achondroplasia is common but should resolve when the child begins to mobilize.
  13. ^ Savarirayan, Ravi; et al. (2021). "International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia". Nature Reviews Endocrinology. doi:10.1038/s41574-021-00595-x. PMID 34837063. S2CID 244638495. Although evidence in this area is scarce, limb lengthening is advised in some countries and not recommended in others. … The timing of limb lengthening varies and has been performed from early childhood to adult life in individuals with achondroplasia.
  14. ^ Savarirayan, Ravi; et al. (2021). "International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia". Nature Reviews Endocrinology. doi:10.1038/s41574-021-00595-x. PMID 34837063. S2CID 244638495. Introducing parents to advocacy and support groups has been proven beneficial.
  15. ^ "Associations". Beyond Achondroplasia. Retrieved 2 January 2022.
  16. ^ Foreman, Pamela K.; Kessel, Femke; Hoorn, Rosa; Bosch, Judith; Shediac, Renée; Landis, Sarah (2020). "Birth prevalence of achondroplasia: A systematic literature review and meta‐analysis". American Journal of Medical Genetics Part A. 182 (10): 2297–2316. doi:10.1002/ajmg.a.61787. PMC 7540685. PMID 32803853.

Achondroplasia in children merger proposal

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The following discussion is closed. Please do not modify it. Subsequent comments should be made in a new section. A summary of the conclusions reached follows.
To not merge, given the unique content related to children warranting separate coverage. Klbrain (talk) 15:12, 19 November 2022 (UTC)[reply]

Hi! As noted above, I'm a COI editor for BioMarin Pharmaceutical, the manufacturer of a treatment for achondroplasia. I’m suggesting that achondroplasia in children be merged into this article. It looks like this article is better maintained, better sourced, and more current, and I think the content is too similar to warrant a split – i.e., most folks would expect to find information about achondroplasia in children as part of this achondroplasia article. It would also be easier to ensure one article is well maintained and avoid inconsistencies between the two articles. Plus, both articles combined total approximately 34KB, not enough to justify division according to WP:SIZERULE.

Thanks for your feedback. Mary Gaulke (talk) 00:05, 7 August 2022 (UTC)[reply]

The discussion above is closed. Please do not modify it. Subsequent comments should be made on the appropriate discussion page. No further edits should be made to this discussion.
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