Other Names for this Disease
- Diastrophic dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
 Diastrophic dysplasia is characterized by shortened arms and legs, spinal deformities, hitchhiker thumbs, joint contractures, and joint pain (osteoarthritis). Joint contractures and spinal deformity tend to worsen with age. Mental development and intelligence are usually normal. Occasionally, children with diastrophic dysplasia die in infancy due to respiratory complications such as pneumonia. Management consists of maintaining joint position and mobility through physical therapy and casting. Surgical correction of clubfoot may be necessary. Arthroplasty of the hips and knees to decrease pain and increase motility may also be indicated. Indications for surgical correction of scoliosis have not yet been established. Diastrophic dysplasia is caused by mutations in the SLC26A2 gene and is inherited in an autosomal recessive manner.Diastrophic dysplasia is a disorder of cartilage and bone development.
Last updated: 6/22/2015
- Diastrophic dysplasia. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia. Accessed 6/22/2015.
- Luisa Bonafé, MD, PhD, Lauréane Mittaz-Crettol, PhD, Diana Ballhausen, MD, and Andrea Superti-Furga, MD.. Diastrophic Dysplasia. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1350/. Accessed 6/22/2015.
- Genetics Home Reference (GHR) contains information on Diastrophic dysplasia. 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 Diastrophic dysplasia. Click on the link to view a sample search on this topic.