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Diseases

Genetic and Rare Diseases Information Center (GARD)

Craniometaphyseal dysplasia, autosomal dominant


Other Names for this Disease
  • CMDD
  • CMD
  • CMDJ
  • Craniometaphyseal dysplasia Jackson type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My niece has been diagnosed with autosomal dominant craniometaphyseal dysplasia. Can you provide information regarding treatment and research ?

Our Answer

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

What is autosomal dominant craniometaphyseal dysplasia?

Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia).[1][2] The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves.[1] If untreated, compression of the cranial nerves can be disabling.[2] The condition is caused by mutations in the ANKH gene. As the name suggests, it is inherited in an autosomal dominant manner.[1][2] Treatment may include surgery to reduce compression of cranial nerves and recontouring of the facial bones.[2]

 

Last updated: 4/11/2016

How might craniometaphyseal dysplasia be treated?

Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Individuals with craniometaphyseal dysplasia should have regular neurologic evaluations, hearing assessments, and ophthalmologic examinations. The frequency of these evaluations and assessments should be determined by the individual's history and severity of skeletal changes.[2]
Last updated: 4/11/2016

Are there any research studies involving craniometaphyseal dysplasia?

ClinicalTrials.gov indicates that research related to craniometaphyseal dysplasia is currently underway at the University of Connecticut's Center for Restorative Medicine and Skeletal Development. The purpose of this study entitled, Genetic and Functional Analysis of Craniometaphyseal Dysplasia, is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators will also study blood and tissue samples from patients to learn about the processes that lead to the disorder. The long-term goal is to find mechanisms to slow down bone deposition in CMD patients.

The director of this study is Ernst Reichenberger, PhD. Contact information is provided below.

Phone: (860) 679-2062
Email: reichenberger@uchc.edu

This laboratory welcomes contact from patients/families interested in participating in a research study for this condition. Referrals from clinicians are also welcomed.

Last updated: 4/11/2016

References
Other Names for this Disease
  • CMDD
  • CMD
  • CMDJ
  • Craniometaphyseal dysplasia Jackson type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.