/cardiospondylocarpofacial syndrome

cardiospondylocarpofacial syndrome

Rare Disease

MONDO:0008005

Also Known As

Forney syndromeForney-Robinson-Pascoe syndromecardiospondylocarpofacial syndromemitral regurgitation-deafness-skeletal anomalies syndromeCSCFForney Robinson Pascoe syndromecongenital heart disease, deafness, and skeletal malformationsmitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

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.