Chondrodysplasia punctata 1, X-linked recessive

Title

Other Names:

Chondrodysplasia punctata 1 X-linked recessive; CDPX1; CPXR; Chondrodysplasia punctata 1 X-linked recessive; CDPX1; CPXR; Arylsulfatase E deficiency; Chondrodysplasia punctata, brachytelephalangic; Chondrodysplasia punctata brachytelephalangic See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases

Summary Summary

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.^[1]^[2]

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.^[1]^[2]

Last updated: 8/10/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of the vertebral column	-
Anosmia	-
Cataract	-
Epiphyseal stippling	-
Hearing impairment	-
Hypogonadism	-
Ichthyosis	-
Microcephaly	-
Short distal phalanx of finger	-
Short nasal septum	-
Short nose	-
X-linked recessive inheritance	-

Last updated: 9/1/2017

Inheritance Inheritance

CDXP1 is inherited in an X-linked recessive manner.^[2] 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.^[1]

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.

Each male child has a 50% chance to be unaffected, and a 50% chance to be affected
Each daughter has a 50% chance to be unaffected, and a 50% chance to be an unaffected carrier

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: 8/10/2016

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Prognosis Prognosis

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: 8/10/2016

Statistics Statistics

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.^[1]

Last updated: 8/10/2016

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: contactus@magicfoundation.org
Website: https://www.magicfoundation.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

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.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Chondrodysplasia punctata 1, X-linked recessive. This website is maintained by the National Library of Medicine.

In-Depth Information

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 Chondrodysplasia punctata 1, X-linked recessive. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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? See answer

Have a question? Contact a GARD Information Specialist.

References References

Braverman NE, Bober M, Brunetti-Pierri N, Oswald GL. Chondrodysplasia Punctata 1, X-Linked Recessive. Gene Reviews. November 20, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1544/.
X-linked chondrodysplasia punctata 1. Genetics Home Reference. November 2011; https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-1.

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