Your browser does not support javascript:   Search for gard here,  Search for news-and-events here.

Recursos en español
ORDR Home Help FAQ Contact Us

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Achondroplasia

Other Names for this Disease
  • ACH
  • Achondroplastic dwarfism
More Names
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview


Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. Achondroplasia is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant fashion.[1][2]


References

  1. Achondroplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=achondroplasia. Accessed August 4, 2011.
  2. Francomano CA. Achondroplasia. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1152/. Accessed August 4, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

4 question(s) from the public on Achondroplasia have been answered. See questions and answers. You can also submit a new question.
On this page

General Information

  • Genetics Home Reference (GHR) contains information on Achondroplasia. Click on the link to go to GHR and review the information.
  • John's Hopkins Medicine has an information page on this topic. Click on the link above to view the information page.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Achondroplasia. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Achondroplasia. Click on the link to go to OMIM and review these resources.

Selected Full-Text Journal Articles