Craniometaphyseal dysplasia, autosomal recessive type
Other Names for this Disease
- Craniometaphyseal dysplasia
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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.
Last updated: 8/24/2010
- Reichenberger E, Chen IP. Craniometaphyseal Dysplasia. GeneReviews. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cranio-md. Accessed 8/24/2010.
- The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.