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Achondroplasia

From Wikipedia
achondroplasia
designated intractable/rare disease, rare disease, type of disease
Subclass ofosteochondrodysplasia Edit
Health specialtymedical genetics Edit
Genetic associationFGFR3 Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/4570 Edit
Has phenotypedwarfism Edit

Achondroplasia be a genetic disorder wey ein primary feature be dwarfism.[1] E be de most common cause of dwarfism[2] den dey affect about 1 insyd 27,500 people.[1] Insyd those plus de condition, de arms den legs be short, while de torso be typically of normal length.[1] Those wey be affected get an average adult height of 131 centimetres (4 ft 4 in) give males den 123 centimetres (4 ft) give females.[1] Oda features fi include an enlarged head plus prominent forehead (frontal bossing)[1] den underdevelopment of de midface (midface hypoplasia).[3] Complications fi include sleep apnea anaa recurrent ear infections.[1] Achondroplasia dey include de extremely rare short-limb skeletal dysplasia plus severe combined immunodeficiency.

Achondroplasia be caused by a mutation insyd de fibroblast growth factor receptor 3 (FGFR3) gene (dem locate insyd chromosome 4) wey dey result in ein protein being overactive.[1] Achondroplasia dey result in impaired endochondral bone growth (bone growth within cartilage).[4] De disorder get an autosomal dominant mode of inheritance, wey dey mean only one mutated copy of de gene be required for de condition to occur.[5] About 80% of cases dey occur insyd kiddies of parents widout de disease, den dey result from a new (de novo, anaa sporadic) mutation, wich most commonly dey originate as a spontaneous change during spermatogenesis.[6] De rest be inherited from a parent plus de condition.[1] De risk of a new mutation dey increase plus de age of de poppie.[2] Insyd families plus two affected parents, kiddies wey inherit both affected genes (for wich der be a 25% chance) typically die before birth anaa insyd early infancy from breathing difficulties.[1] De condition generally be diagnosed based on de clinical features buh fi be confirmed by genetic testing.[6] Mutations insyd FGFR3 sanso dey cause achondroplasia-related conditions wey dey include hypochondroplasia den SADDAN (severe achondroplasia plus developmental delay den acanthosis nigricans), a rare disorder of bone growth characterized by skeletal, brain, den skin abnormalities wey dey result in severe short-limb skeletal dysplasia plus severe combined immunodeficiency.[7]

Treatments dey include small molecule therapy plus a C-natriuretic peptide analog (vosoritide), dem approve to improve growth velocity insyd kiddies plus achondroplasia based on results insyd Phase 3 human trials, although ein long-term effects be unknown.[8] Growth hormone therapy sanso fi be used.[6] Efforts to treat anaa prevent complications such as obesity, hydrocephalus, obstructive sleep apnea, middle ear infections anaa spinal stenosis fi be required.[6] Support groups exist give those plus de condition, such as Little People of America (LPA). Nonprofit physician organizations sanso dey exist to disseminate information about treatment den management options, wey dey include development of patient resources.

Famous people plus achondroplasia

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  • Ucok Baba - Indonesian actor, presenter, comedian den singer[9]
  • Josh Ryan Evans - American actor[10]
  • David Rappaport - English actor[11]
  • Jason Acuña - American stunt performer[12]
  • Mimie Mathy - French actress, comedian, den singer[13]
  • Eric Cullen - Scottish actor[14]
  • Peter Dinklage - American actor[15]
  • Mike Edmonds - English actor[16]
  • Ellie Simmonds - British Paralympic swimmer[17]
  • Kate Wilson - Australian Paralympic swimmer[18]
  • Rico Abreu - American racing driver[19]
  • Kyron Duke - Welsh powerlifter den Paralympic track and field athlete[20]
  • Sarah Bowen - Australian Paralympic swimmer[21]
  • Claire Keefer - Bronze medalist insyd de 2016 Rio Paralympics[22]
  • Brad Williams - American comedian den actor[23]
  • Alan Eggleston - Australian politician[24]
  • Michael Ain - American orthopedic surgeon[25]


References

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  1. 1 2 3 4 5 6 7 8 9 "Achondroplasia". Genetics Home Reference (in English). May 2012. Retrieved 12 December 2017.
  2. 1 2 Horton, William A; Hall, Judith G; Hecht, Jacqueline T (July 2007). "Achondroplasia". The Lancet. 370 (9582): 162–172. doi:10.1016/S0140-6736(07)61090-3. PMID 17630040. S2CID 208788746.
  3. ↑ White, Klane K.; Bompadre, Viviana; Goldberg, Michael J.; Bober, Michael B.; Campbell, Jeffrey W.; Cho, Tae-Joon; Hoover-Fong, Julie; Mackenzie, William; Parnell, Shawn E.; Raggio, Cathleen; Rapoport, David M.; Spencer, Samantha A.; Savarirayan, Ravi (2016-01-01). "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy". American Journal of Medical Genetics Part A (in English). 170 (1): 42–51. doi:10.1002/ajmg.a.37394. ISSN 1552-4825. PMID 26394886. S2CID 22430204.
  4. ↑ 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.
  5. ↑ "Achondroplasia". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (in English). 2016. Retrieved 12 December 2017.
  6. 1 2 3 4 Pauli, RM; Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Mefford, HC; Stephens, K; Amemiya, A; Ledbetter, N (2012). "Achondroplasia". GeneReviews. PMID 20301331.
  7. ↑ Legare, Janet M. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Achondroplasia", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301331, retrieved 2023-12-15
  8. ↑ Savarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William; Bacino, Carlos A.; Hoover-Fong, Julie; Font, Rosendo Ullot; Harmatz, Paul; Rutsch, Frank; Bober, Michael B.; Polgreen, Lynda E.; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschemeyer, Daniel; Ozono, Keiichi; Alanay, Yasemin; Arundel, Paul; Kagami, Shoji; Yasui, Natsuo; White, Klane K.; Saal, Howard M.; Leiva-Gea, Antonio; Luna-González, Felipe; Mochizuki, Hiroshi; Basel, Donald; Porco, Dania M.; Jayaram, Kala; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan (5 September 2020). "Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial". The Lancet. 396 (10252): 684–692. doi:10.1016/S0140-6736(20)31541-5. PMID 32891212. S2CID 221472752.
  9. ↑ "Ucok Baba Tak Terlihat Lagi Melawak, Kondisinya Bikin Kaget Banyak Orang". Tribunnews.com (in Indonesian). 2026-02-28. Retrieved 2026-02-28.
  10. ↑ "Small Wonder : People.com". people.com. Archived from the original on 2008-11-01. Retrieved 2026-02-28.
  11. ↑ Ap (1990-05-04). "David Rappaport, Character Actor, 38, Seen on 'L.A. Law'". The New York Times (in American English). ISSN 0362-4331. Retrieved 2026-02-28.
  12. ↑ Weaver, Caity (2022-01-24). "The Tao of Wee Man". The New York Times (in American English). ISSN 0362-4331. Retrieved 2026-02-28.
  13. ↑ Randall, Colin (7 March 2007). "Short sharp shock for followers of the femme fatal". Telegraph. Retrieved 28 February 2026.{{cite web}}: CS1 maint: url-status (link)
  14. ↑ "Double curse on tragic life . Actor Eric Cullen's illegitimacy and his size tormented him throughout his career". The Herald (in English). 1996-08-17. Retrieved 2026-02-28.
  15. ↑ "25 Things You Didn't Know About Peter Dinklage". Complex (in English). 2013-06-07. Retrieved 2026-02-28.
  16. ↑ "Under the Radar: The Mike Edmonds Story". FilmFreeway (in English). Retrieved 2026-02-28.
  17. ↑ Brown, Oliver (15 September 2012). "Ellie Simmonds, golden girl of the Paralympics, says she will never forget the feeling and doesn't want it to end". Telegraph. Retrieved 26 February 2026.{{cite news}}: CS1 maint: url-status (link)
  18. ↑ Ryner, Sascha (2016-07-31). "Kate Wilson - Paralympics Australia". www.paralympic.org.au (in Australian English). Retrieved 2026-02-28.
  19. ↑ "ABOUT". Rico Abreu Racing (in English). Retrieved 2026-02-28.
  20. ↑ "Cwmbran's Duke keeps it in family". South Wales Argus (in English). 2010-07-09. Retrieved 2026-02-28.
  21. ↑ "Sarah Bowen - Swimming | Paralympic Athlete Profile". International Paralympic Committee (in English). Retrieved 2026-02-28.
  22. ↑ "Athlete Bio". ipc.infostradasports.com. Archived from the original on 2019-12-13. Retrieved 2026-02-28.
  23. ↑ "Home | Brad Williams". bradwilliamscomedy.com (in English). Retrieved 2026-02-28.
  24. ↑ Buxton, Jeremy (2025-05-26). "ALAN EGGLESTON AM 1941-2025". LibMail (in English). Retrieved 2026-02-28.
  25. ↑ Chowdhury, Arushi Roy (2025-10-30). "Dr. Michael Ain: The Johns Hopkins Surgeon Redefining Dwarfism Care". Medbound Times. Retrieved 2026-03-18.
[edit | edit source]
  • Pauli RM (1998). "Achondroplasia". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews. Seattle WA: University of Washington, Seattle. PMID 20301331. NBK1152.
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