Hopp til hovedinnhold

Akondroplasi

Sist oppdatert: Sist revidert:
Sist revidert av:
Definisjon:
Er den vanligste formen for skjelettdysplasi og skyldes en genfeil. Den gir dysproporsjonal kortvoksthet med forkortning av armer og ben
Forekomst:
Insidensen er beregnet å ligge mellom 1 per 10.000 til 30.000 levendefødte
Symptomer:
Medfødt tilstand
Funn:
Er karakterisert ved en lang, smal trunkus og korte lemmer, særlig overarmer og lår
Undersøkelser:
Prenatal ultralyd, DNA-testing, ev. skjelettrøntgen
Behandling:
Behandle eller forebygge komplikasjoner
  1. Horton WA. Recent milestones in achondroplasia research. Am J Med Genet A 2006; 140: 166-9. PubMed  
  2. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet 2007; 370: 162-72. PubMed  
  3. Bacino CA. Achondroplasia. UpToDate, last updated Jul 15, 2019. www.uptodate.com  
  4. Parikh S. Achondroplasia. Medscape, last updated Mar 29, 2016. emedicine.medscape.com  
  5. Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr. 2010 Aug. 22(4):516-23.
  6. Horton WA and Lunstrum GP. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord 2002; 3: 381-5. PubMed  
  7. Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994; 78: 335-42. PubMed  
  8. Bellus GA, Hefferon TW, Ortiz de Luna RI, et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995; 56: 368-73. PubMed  
  9. Bellus GA, McIntosh I, Smith EA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995; 10: 357-9. PubMed  
  10. Horton WA. Fibroblast growth factor receptor 3 and the human chondrodysplasias. Curr Opin Pediatr 1997; 9: 437-42. PubMed  
  11. Wilkin DJ, Szabo JK, Cameron R, et al. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 1998; 63: 711-6. PubMed  
  12. Trotter TL and Hall JG. Health supervision for children with achondroplasia. Pediatrics 2005; 116: 771-83. Pediatrics  
  13. Mesoraca A, Pilu G, Perolo A, et al. Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia. Prenat Diagn 1996; 16: 764-8. PubMed  
  14. Bruhl K, Stoeter P, Wietek B, et al. Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction. Eur J Pediatr 2001; 160: 10-20. PubMed  
  15. Hecht JT, Nelson FW, Butler IJ et al. Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards. Am J Med Genet 1985; 20: 355-60. PubMed  
  16. Zucconi M, Weber G, Castronovo V, et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr 1996; 129: 743-9. PubMed  
  17. Stanley G, McLoughlin S and Beals RK. Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop 2002; 22: 112-6. PubMed  
  18. Hunter AG, Bankier A, Rogers JG, Sillence D and Scott Jr CI. Medical complications of achondroplasia: a multicentre patient review. J Med Genet 1998; 35: 705-12. PubMed  
  19. Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in Achondroplasia Study: A 42-year follow-up. Am J Med Genet A. 2007; 143A: 2502-11. PMID: 17879967 PubMed  
  20. Hecht JT, Hood OJ, Schwartz RJ, Hennessey JC, Bernhardt BA, Horton WA. Obesity in Achondroplasia. Am J Med Gen 1988; 31: 597-602. PubMed  
  21. Allanson JE and Hall JG. Obstetric and gynecologic problems in women with chondrodystrophies. Obstet Gynecol 1986; 67: 74-8. PubMed  
  22. Yasoda A, Ogawa Y, Suda M, et al. Natriuretic peptide regulation of endochondral ossification. Evidence for possible roles of the C-type natriuretic peptide/guanylyl cyclase-B pathway. J Biol Chem 1998; 273:11695. PubMed  
  23. Boor R, Fricke G, Bruhl K and Spranger J. Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. Eur J Pediatr 1999; 158: 662-7. PubMed  
  24. Rimoin DL. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet 1995; 56: 824-7. PubMed  
  25. Pyeritz RE, Sack Jr GH and Udvarhelyi GB. Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. Am J Med Genet 1987; 28: 433-44. PubMed  
  26. Pauli RM, Horton VK, Glinski LP and Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 1995; 56: 732-44. PubMed  
  27. Baujat G,Legeai-Mallet L, Cormier-Daire V, Le Merrer M. Achondroplasia. Best Practice & Research . Clinical Rheumatology 2008; 22: 3-18. PubMed  
  28. Superti-Furga A and Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 2007; 143: 1-18. PubMed  
  29. Ho NC, Guarnieri M, Brant LJ, et al. Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. Am J Med Genet A 2004; 131: 163-7. PubMed  
  30. Lachman RS. Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. Am J Med Genet 1997; 69: 33-43. PubMed  
  31. Hecht JT, Francomano CA, Horton WA and Annegers JF. Mortality in achondroplasia. Am J Hum Genet 1987; 41: 454-64. PubMed  
  32. Gollust SE, Thompson RE, Gooding HC and Biesecker BB. Living with achondroplasia in an average-sized world: an assessment of quality of life. Am J Med Genet A 2003; 120: 447-58. PubMed  
  33. Mahomed NN, Spellmann M and Goldberg MJ. Functional health status of adults with achondroplasia. Am J Med Genet 1998; 78: 30-5. PubMed  
  34. Tasker RC, Dundas I, Laverty A, Fletcher M, Lane R, Stocks J. Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical sleep and lung function study. Arch Dis Child 1998; 79: 99-108. PubMed  
  • Terje Johannessen, professor i allmennmedisin, Trondheim

Tidligere fagmedarbeidere

  • Nina Riise, overlege, TRS kompetansesenter for sjeldne diagnoser, Sunnaas sykehus HF
  • Heidi Johansen, ergoterapispesialist i allmennhelse, Master i helsefagvitenskap, TRS kompetansesenter for sjeldne diagnoser, Sunnaas sykehus HF