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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cleidocranial dysplasia


Other Names for this Disease
  • CLCD
  • Cleidocranial dysostosis
  • Dysplasia cleidocranial
  • Marie-Sainton disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is cleidocranial dysplasia diagnosed?

A person with features of cleidocranial dysplasia (CCD) or any other skeletal dysplasia should be referred to an orthopedist. If the doctor suspects a diagnosis of CCD, a skeletal survey (series of X-rays) should be ordered. The skeletal survey should include specific X-rays of the skull and thorax (chest); pelvis; lumbar spine (lower back); and long bones, hands, and feet.

Genetic testing of the RUNX2 gene, the only gene known to cause CCD, can be considered to confirm the diagnosis. This is particularly if the signs and symptoms found in the physical exam and X-rays do not meet the diagnostic criteria.

People with uncommon features of CCD and developmental delay may have another type of genetic testing called chromosomal microarray (CMA) to look for small missing pieces of chromosomes (microdeletions) or small extra pieces (microduplications) that involve the RUNX2 gene. If CMA does not confirm the diagnosis and CCD is still strongly suspected, a karyotype (organized chromosome picture) may still be considered to look for rearrangements of genetic material.

During a pregnancy, a fetus at risk can be tested for CCD if the genetic cause of the condition has already been identified in a family member. This is called prenatal diagnosis. This can be done by testing the DNA of fetal cells obtained by amniocentesis (in the 2nd trimester) or chorionic villus sampling (in the 1st trimester).

CCD may also be diagnosed in a pregnancy by an ultrasound of the fetus of an affected parent. CCD may be apparent on ultrasound as early as 14 weeks' gestation. The most common features seen on ultrasound are abnormal collarbones (clavicles), which are either very short, partially absent, or totally absent.[1]

A number of other conditions share some characteristics with CCD. You can read about these conditions and their features on the GeneReviews website by clicking here.
Last updated: 7/26/2016

How and where can someone get genetic testing for cleidocranial dysplasia?

People with questions about a possible diagnosis of cleidocranial dysplasia (CCD) and are interested in genetic testing should first meet with an orthopedist and/or a professional who specializes in genetics (medical geneticist or genetic counselor). These specialists, either alone or working together, can:
  • perform a thorough physical exam,
  • evaluate the medical and family history,
  • order laboratory or imaging studies,
  • address questions and concerns,
  • facilitate genetic testing if appropriate and desired, and
  • assess recurrence risks to other family members.
A number of other conditions share some characteristics with CCD, and a specialist can help determine whether genetic testing for CCD, or possibly a different skeletal dysplasia, would be most informative.

The Genetic Testing Registry (GTR) provides information about the genetic tests for CCD and the laboratories that offer testing. However, 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.

To find a medical professional who specializes in genetics in your area, 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: 7/27/2016

References
  1. Mendoza-Londono R & Lee B. Cleidocranial dysplasia. GeneReviews. 2013; http://www.ncbi.nlm.nih.gov/books/NBK1513/.


Testing

  • 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.
Other Names for this Disease
  • CLCD
  • Cleidocranial dysostosis
  • Dysplasia cleidocranial
  • Marie-Sainton disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.