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.

Also known as: Forney syndrome, Forney-Robinson-Pascoe syndrome, cardiospondylocarpofacial syndrome, mitral regurgitation-deafness-skeletal anomalies syndrome, CSCF, Forney Robinson Pascoe syndrome, congenital heart disease, deafness, and skeletal malformations, mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

0 clinical trials for this condition and its sub-types.