Other Names for this Disease
- Achondroplastic dwarfism
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.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
Last updated: 11/12/2015
- Genetics Home Reference (GHR) contains information on Achondroplasia. This website is maintained by the National Library of Medicine.
- John's Hopkins Medicine has an information page on this topic. Click on the link above to view the information page.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.
- Totter TL, Hall JG, Committee on Genetics. Health Supervision for Children With Achondroplasia. Pediatrics 2005;116;771-783.