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Don’t fight Chondrodysplasia punctata 1, X-linked recessive alone.
Find your community on the free RareGuru App.Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, infants with CDPX1 have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between ages 2 and 3. Additional common features of CDPX1 are shortened fingers and a flattened nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and intellectual delays.
CDPX1 is caused by mutations in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males. Most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening. Although there is no specific treatment or cure for CDPX1, there are ways to manage symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.
Source: GARD Last updated on 05-01-20
CDXP1 is inherited in an X-linked recessive manner. X-linked recessive conditions usually occur in males, who only have one X chromosome (and one Y chromosome). Females have two X chromosomes, so if they have a gene mutation on one of them, they still have a normal copy on their other X chromosome. For this reason, females are typically unaffected. While females can have an X-linked recessive condition, it is very rare. There are no known cases of females carriers of CDXP1 with symptoms.
If a mother is a carrier of an X-linked recessive condition and the father is not, the risk to children depends on each child's sex.
If a father has the condition and the mother is not a carrier, all sons will be unaffected, and all daughters will be unaffected carriers.
Last updated on 05-01-20
We suggest you review our resource titled "Get Involved in Research" to learn more about how to find a research study, clinical trial, or patient registry. We also suggest contacting the organizations supporting CDXP1, as they may be aware of ongoing research.
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
Phone: 310-825-8998
Toll-free: 1-310-423-9915
Fax: 310-423-0462
Email: AZargaryan@mednet.ucla.edu
Website: http://isdr.csmc.edu
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
Website: https://igm.jhmi.edu/content/greenberg-center-skeletal-dysplasias-
welcome
Last updated on 05-01-20
The chance of inheriting CDPX1 may be increased if a person has a family history of this condition. If you are concerned about a family history of CDXP1, we recommend a consultation with a genetics specialist.
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated on 05-01-20
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.
Last updated on 05-01-20
The exact number of individuals with CDPX1 is not known. In one study, it was estimated to occur in 1 in 500,000 people; however, it is suspected to be more common.
Last updated on 05-01-20
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