Chondrodysplasia punctata 1, X-linked recessive
Other Names for this Disease
- Arylsulfatase E deficiency
- Brachytelephalangic chondrodysplasia punctata
- Chondrodysplasia punctata 1 X-linked recessive
- Chondrodysplasia punctata brachytelephalangic
Your QuestionWhat is the life expectancy of someone born with chondrodysplasia punctata 1, X-linked recessive (CDPX1)? What are the odds of getting CDPX1? What research is being done at present regarding CDPX1?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
GeneTests lists a research laboratory that is performing genetic testing for CDPX1. Please note, this laboratory does not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
In addition, ClinicalTrials.gov has listed a clinical trial titled, “Evaluation and Treatment of Skeletal Diseases,” which may be of interest. We recommend you review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more.
You can also contact the following skeletal dysplasia registries which are involved in clinical and laboratory investigations of these disorders.
International Skeletal Dysplasia Registry
Medical Genetics Institute
8635 West Third Street, Suite 665
Los Angeles, CA 90048
Web site: http://www.csmc.edu/3805.html
Greenberg Center for Skeletal Dysplasias
Johns Hopkins University
Institute of Genetic Medicine
600 North Wolfe Street
Baltimore, MD 21287
Web site: http://www.hopkinsmedicine.org/geneticmedicine/CR/SKD/index.html
- Braverman NE, Bober M, Brunetti-Pierri N, Oswald GL. Chondrodysplasia Punctata 1, X-Linked Recessive. Gene Reviews. April 22, 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cdp1-xlr. Accessed 4/20/2009.