Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

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Last updated: 12/1/2006

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