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Genetic and Rare Diseases Information Center (GARD)

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Chondrodysplasia punctata 1, X-linked recessive


Other Names for this Disease
  • Arylsulfatase E deficiency
  • CDPX1
  • Chondrodysplasia punctata 1 X-linked recessive
  • Chondrodysplasia punctata brachytelephalangic
  • Chondrodysplasia punctata, brachytelephalangic
More Names
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Your Question

What 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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is the life expectancy for chondrodysplasia punctata 1, X-linked recessive (CDPX1)?

Most individuals with CDPX1 have a normal life span; however, some people have significant medical problems that can lead to early death. These life-threatening complications include abnormalities of the respiratory tract that result in a narrow airway and abnormalities of the spinal bones in the neck that narrow the spinal cord canal.[1]
Last updated: 4/21/2009

How common is chondrodysplasia punctata 1, X-linked recessive (CDPX1)?

The prevalence of CDPX1 is unknown.[1] CDPX1 is estimated to occur in 1 in 500,000 people. The chance of inheriting CDPX1 may be increased if a person has a family history of this condition. CDPX1 is inherited in an X-linked recessive manner.[1]
Last updated: 4/21/2009

How can I learn about research involving chondrodysplasia punctata 1, X-linked recessive (CDPX1)?

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
Toll-free: 1-310-423-9915
Fax: 310-423-0462
E-mail: arleen.hernandez@cshs.org
Web site: http://www.csmc.edu/3805.html

Greenberg Center for Skeletal Dysplasias
Johns Hopkins University
Institute of Genetic Medicine
600 North Wolfe Street
Blalock 1008
Baltimore, MD 21287
Telephone: 410-614-0977
E-mail:  deedee@jhmi.edu
Web site:  http://www.hopkinsmedicine.org/geneticmedicine/CR/SKD/index.html

Last updated: 4/21/2009

References