Skip to main content
SpringerLink
Log in

Achondroplasia

  • Reference work entry
  • First Online:
Book cover Atlas of Genetic Diagnosis and Counseling

  • 535 Accesses

Abstract

Achondroplasia is the most common form of short-limbed dwarfism. Gene frequency is estimated to be 1/16,000 and 1/35,000. There are about 5000 achondroplasts in the USA and 65,000 on Earth. The incidence for achondroplasia is between 0.5 and 1.5 in 10,000 births. The mutation rate is high and is estimated to be between 1.72 and 5.57 × 10−5 per gamete per generation. Most infants with achondroplasia are born unexpectedly to parents of average stature.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Afsharpairman, S., Saburi, A., & Waters, K. A. (2013). Respiratory difficulties and breathing disorders in achondroplasia. Paediatric Respiratory Reviews, 14, 250–255.

    Article  Google Scholar 

  • Aldegheri, R., Trivella, G., Renzi-Brivio, L., et al. (1988). Lengthening of the lower limbs in achondroplastic patients. A comparative study of four techniques. The Journal of Bone and Joint Surgery, 70B, 69–73.

    Google Scholar 

  • American Academy of Pediatrics Committee on Genetics. (1995). Health supervision for children with achondroplasia. Pediatrics, 95, 443–451.

    Google Scholar 

  • American Academy of Pediatrics: Clinical Report. (2005). Health supervision for children with achondroplasia. Pediatrics, 116, 771–783.

    Article  Google Scholar 

  • Baujat, G., Legeai-Mallet, L., Finidori, G., et al. (2008). Achondroplasia. Best Practice & Research. Clinical Rheumatology, 22, 3–18.

    Article  CAS  Google Scholar 

  • Bellus, G. A., Hefferon, T. W., Ortiz de Luna, R. I., et al. (1995). Achondroplasia is defined by recurrent G380R mutations of FGFR3. American Journal of Human Genetics, 56, 368–373.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Bellus, G. A., Bamshad, M. J., Przylepa, K. A., et al. (1999). Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. American Journal of Human Genetics, 85, 53–65.

    CAS  Google Scholar 

  • Boulet, S., Althuser, M., Nugues, F., et al. (2009). Prenatal diagnosis of achondroplasia: New specific signs. Prenatal Diagnosis, 29, 697–702.

    Article  PubMed  Google Scholar 

  • Carter, E. M., Davis, J. G., & Raggio, C. L. (2007). Advances in understanding etiology of achondroplasia and review of management. Current Opinion in Pediatrics, 19, 32–37.

    Article  PubMed  Google Scholar 

  • Chen, H., Mu, X., Sonoda, T., et al. (2000). FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: Phenotype-genotype correlation. Southern Medical Journal, 93, 622–624.

    Article  CAS  PubMed  Google Scholar 

  • Cordone, M., Lituania, M., Bocchino, G., et al. (1993). Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks’ gestation. Prenatal Diagnosis, 13, 395–401.

    Article  CAS  PubMed  Google Scholar 

  • Fryns, J. P., Kleczkowska, A., Verresen, H., et al. (1983). Germinal mosaicism in achondroplasia: A family with 3 affected siblings of normal parents. Clinical Genetics, 24, 156–158.

    Article  CAS  PubMed  Google Scholar 

  • Ganel, A., & Horoszowski, H. (1996). Limb lengthening in children with achondroplasia. Differences based on gender. Clinical Orthopaedics and Related Research, 332, 179–183.

    Article  Google Scholar 

  • Ganel, A., Horoszowski, H., Kamhin, M., et al. (1979). Leg lengthening in achondroplastic children. Clinical Orthopaedics, 144, 194–197.

    Google Scholar 

  • Hall, J. G., Dorst, J., Taybi, H., et al. (1969). Two probable cases of homozygosity for the achondroplasia gene. Birth Defects Original Article Series, V(4), 24–34.

    Google Scholar 

  • Hecht, J. T., & Butler, I. J. (1990). Neurologic morbidity associated with achondroplasia. Journal of Child Neurology, 5, 84–97.

    Article  CAS  PubMed  Google Scholar 

  • Hecht, J. T., Francomano, C. A., Horton, W. A., et al. (1987). Mortality in achondroplasia. American Journal of Human Genetics, 41, 454–464.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Henderson, S., Sillence, D., Loughlin, J., et al. (2000). Germline and somatic mosaicism in achondroplasia. Journal of Medical Genetics, 37, 956–958.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hoover-Fong, J. E., McGready, J., Schulze, K. J., et al. (2007). Weight for age charts for children with achondroplasia. American Journal of Medical Genetics Part A, 143A, 2227–2235.

    Article  CAS  PubMed  Google Scholar 

  • Horton, W. A., Rotter, J. I., Rimoin, D. L., et al. (1978). Standard growth curves for achondroplasia. Journal of Pediatrics, 93, 435–438.

    Article  CAS  PubMed  Google Scholar 

  • Horton, W. A., Hecht, J. T., Hood, O. J., et al. (1992). Growth hormone therapy in achondroplasia. American Journal of Medical Genetics, 42, 667–670.

    Article  CAS  PubMed  Google Scholar 

  • Horton, W. A., Hall, J. G., & Hecht, J. T. (2007). Achondroplasia. Lancet, 370, 162–172.

    Article  CAS  PubMed  Google Scholar 

  • Hunter, A. G. W., Hecht, J. T., & Scott, C. I. (1996). Standard weight for height curves in achondroplasia. American Journal of Medical Genetics, 62, 255–261.

    Article  CAS  PubMed  Google Scholar 

  • Hunter, A. G. W., Bankier, A., Rogers, J. G., et al. (1998). Medical complications of achondroplasia: A multicenter patient review. Journal of Medical Genetics, 35, 705–712.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • King, J. A. J., Vachhrajani, S., Drake, J. M., et al. (2009). Neurosurgical implications of achondroplasia. A review. Journal of Neurosurgery Pediatrics, 4, 297–306.

    Article  PubMed  Google Scholar 

  • Krakow, D., Williams, J., 3rd, Poehl, M., et al. (2003). Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound in Obstetrics & Gynecology, 21, 467–472.

    Article  CAS  Google Scholar 

  • Langer, L. O., Jr., Baumann, P. A., & Gorlin, R. J. (1967). Achondroplasia. American Journal of Roentgenology, 100, 12–26.

    Article  Google Scholar 

  • Lattanzi, D. R., & Harger, J. H. (1982). Achondroplasia and pregnancy. The Journal of Reproductive Medicine, 27, 363–366.

    CAS  PubMed  Google Scholar 

  • Lavini, F., Renzi-Brivio, L., & de Bastiani, G. (1990). Psychologic, vascular, and physiologic aspects of lower limb lengthening in achondroplastics. Clinical Orthopaedics and Related Research, 250, 138–142.

    Google Scholar 

  • Lemyre, E., Azouz, E. M., Teebi, A. S., et al. (1999). Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: Review and update. Canadian Association of Radiologists Journal, 50, 185–197.

    CAS  PubMed  Google Scholar 

  • Lutter, L. D., & Langer, L. O. (1977). Neurologic symptoms in achondroplastic dwarfs-surgical treatment. The Journal of Bone and Joint Surgery, 59(1), 87–92.

    Article  CAS  PubMed  Google Scholar 

  • Mesoraca, A., Pilu, G., Perolo, A., et al. (1996). Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia. Prenatal Diagnosis, 16, 764–768.

    Article  CAS  PubMed  Google Scholar 

  • Mettler, G., & Fraser, F. C. (2000). Recurrence risk for sibs of children with “sporadic” achondroplasia. American Journal of Medical Genetics, 90, 250–251.

    Article  CAS  PubMed  Google Scholar 

  • Mogayzel, P. J., Jr., Carroll, J. L., Loughlin, G. M., et al. (1998). Sleep-disordered breathing in children with achondroplasia. Journal of Pediatrics, 132, 667–671.

    Article  PubMed  Google Scholar 

  • Moutou, C., Rongieres, C., Bettahar-Lebugle, K., et al. (2003). Preimplantation genetic diagnosis for achondroplasia: Genetics and gynaecological limits and difficulties. Human Reproduction, 18, 509–514.

    Article  CAS  PubMed  Google Scholar 

  • Natacci, F., Baffico, M., Cavallari, U., et al. (2008). Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. American Journal of Medical Genetics Part A, 146A, 784–786.

    Article  CAS  PubMed  Google Scholar 

  • Patel, M. D., & Filly, R. A. (1995). Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester. Radiology, 196, 541–545.

    Article  CAS  PubMed  Google Scholar 

  • Pauli, R. M. (2012). Achondroplasia. GeneReviews. Updated Feb 16, 2012. Available at http://www.ncbi.nih.gov/books/NBK1152/

  • Pierre-Kahn, A., Hirsch, J. F., Renier, D., et al. (1980). Hydrocephalus and achondroplasia. A study of 25 observations. Child’s Brain, 7, 205–219.

    CAS  PubMed  Google Scholar 

  • Richette, P., Bardin, T., & Stheneur, C. (2008). Achondroplasia: From genotype to phenotype. Joint, Bone, Spine, 75, 125–130.

    Article  PubMed  Google Scholar 

  • Rimoin, D. L. (1991). Limb lengthening: Past, present, and future. Growth Genetics and Hormones, 7, 4–6.

    Google Scholar 

  • Ruano, R., Molho, M., Roume, J., et al. (2004). Prenatal diagnosis of fetal skeletal dysplasias by combining two dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography. Ultrasound in Obstetrics & Gynecology, 24, 134–140.

    Article  CAS  Google Scholar 

  • Seino, Y., Yamanaka, Y., Shinohanora, M., et al. (2000). Growth hormone therapy in achondroplasia. Hormone Research, 533, 53–56.

    Article  Google Scholar 

  • Shiang, R., Thompson, L. M., Zhu, Y.-Z., et al. (1994). Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell, 78, 335–342.

    Article  CAS  PubMed  Google Scholar 

  • Shirley, E. D., & Ain, M. C. (2009). Achondroplasia: Manifestations and treatment. Journal of the American Academy of Orthopaedic Surgeons, 17, 231–241.

    Article  PubMed  Google Scholar 

  • Shohat, M., Tick, D., Barakat, S., et al. (1996). Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. The Journal of Clinical Endocrinology and Metabolism, 81, 4033–4037.

    CAS  PubMed  Google Scholar 

  • Spranger, J. (1988). Bone dysplasia families. Pathology and Immunopathology Research, 7, 76–80.

    Article  CAS  PubMed  Google Scholar 

  • Spranger, J. W., Langer, L. O., Jr., & Wiedemann, H. R. (1974). Bone dysplasias. An atlas of constitutional disorders of skeletal development. Philadelphia: WB Saunders.

    Google Scholar 

  • Spranger, J., Winterpacht, A., & Zabel, B. (1994). The type II collagenopathies: A spectrum of chondrodysplasias. European Journal of Pediatrics, 153, 56–65.

    CAS  PubMed  Google Scholar 

  • Superti-Furga, A., & Unger, S. (2007). Nosology and classification of genetic skeletal disorders: 2006 revision. American Journal of Medical Genetics Part A, 143A, 1–18.

    Article  PubMed  Google Scholar 

  • Vajo, Z., Francomano, C. A., & Wilkin, D. J. (2000). The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocrine Reviews, 21, 23–39.

    CAS  PubMed  Google Scholar 

  • Velinov, M., Slaugenhaupt, S. A., Stoilov, I., et al. (1994). The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nature Genetics, 6, 318–321.

    Article  Google Scholar 

  • Wynn, J., King, T. M., Gambello, M. J., et al. (2007). Mortality in achondroplasia study: A 42-year follow-up. American Journal of Medical Genetics Part A, 143A, 2502–2511.

    Article  PubMed  Google Scholar 

  • Yang, S. S., & Gilbert-Barnes, E. (1997). Skeletal system. In E. Gilbert-Barness (Ed.), Potter’s pathology of the fetus and infant (pp. 1423–1478). St Louis: Mosby.

    Google Scholar 

  • Yasui, N., Kawahata, H., Kojimoto, H., et al. (1997). Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. Clinical Orthopaedics, 344, 298–306.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Science+Business Media LLC

About this entry

Cite this entry

Chen, H. (2017). Achondroplasia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_3

Download citation

  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_3

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation