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

Other Names: Forney Robinson Pascoe syndrome; Congenital heart disease, deafness, and skeletal malformations; Cardiospondylocarpofacial syndrome

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.

NIH genetic and rare disease info

• NIH info on Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones is a rare disease.

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