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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the vertebral column	Abnormal spine Abnormal vertebral column Abnormality of the spine [ more ]	0000925
Anosmia	Lost smell	0000458
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Epiphyseal stippling	Speckled calcifications in end part of bone	0010655
Global developmental delay		0001263
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hypogonadism	Decreased activity of gonads	0000135
Ichthyosis		0008064
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Short distal phalanx of finger	Short outermost finger bone	0009882
Short nasal septum	Decreased length of nasal septum Decreased length of septum of nose Short septum of nose [ more ]	0000420
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short stature	Decreased body height Small stature [ more ]	0004322
X-linked recessive inheritance		0001419

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Last updated: 3/1/2020

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.

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

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The differential diagnosis includes other types of chondrodysplasia punctata, warfarin embryopathy, pseudowarfarin embryopathy, vitamin K malabsorption embryopathy, lupus erythematosus embryopathy, hydantoin embryopathy, Keutel syndrome, and maxillonasal dysplasia. Visit the Orphanet disease page for more information.

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/

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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

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.
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.

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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