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Genetic and Rare Diseases Information Center (GARD)

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Craniometaphyseal dysplasia, autosomal dominant

Other Names for this Disease
  • CMD
  • CMDD
  • CMDJ
  • Craniometaphyseal dysplasia Jackson type
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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 craniometaphyseal dysplasia?

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). The condition is caused by mutations in the ANKH gene. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.[1]


Last updated: 8/24/2010

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: 8/24/2010

Are there any research studies involving craniometaphyseal dysplasia?

RePORTER and GeneTests indicate 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 is to identify additional gene mutations for craniometaphyseal dysplasia and to study the function of the caustive gene - ANKH - and its mutations. 

The director of this study is Ernst Reichenberger, PhD. Contact information is provided below.
Phone: (860) 679-2062
Fax: (860) 679-2910

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: 8/24/2010