Cardiospondylocarpofacial syndrome
Cardiospondylocarpofacial syndrome
Definition
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 cardiospondylocarpofacial syndrome, Forney syndrome, Forney-Robinson-Pascoe syndrome, mitral regurgitation-deafness-skeletal anomalies syndrome — per MONDO