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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Craniometaphyseal dysplasia, autosomal recessive type


Other Names for this Disease
  • CMDR
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Overview



What is craniometaphyseal dysplasia?

What are the signs and symptoms of craniometaphyseal dysplasia?

How might craniometaphyseal dysplasia be treated?


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

What are the signs and symptoms of craniometaphyseal dysplasia?

Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness.[1]

The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition.[1]

Last updated: 3/9/2011

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

References
  1. Craniometaphyseal dysplasia. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia. Accessed 8/24/2010.
  2. 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.