Other Names for this Disease
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dwarfism that affects the conversion of cartilage into bone, particularly in the long bones of the arms and legs. Hypochondroplasia is similar to achondroplasia, but the features tend to be milder. People with this condtion usually have short arms and legs and broad, short hands and feet. Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs. Hypochondroplasia is caused by mutations in the FGFR3 gene and is inherited in an autosomal dominant fashion.Hypochondroplasia is a form
Last updated: 4/29/2011
- Hypochondroplasia. Genetics Home Reference. June 2006; http://ghr.nlm.nih.gov/condition/hypochondroplasia. Accessed 4/29/2011.
- Genetics Home Reference (GHR) contains information on Hypochondroplasia. This website is maintained by the National Library of Medicine.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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 Hypochondroplasia. Click on the link to view a sample search on this topic.