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.
MONDO:0019690
filamin-related bone disorder
is_a
CSCF
related
Forney Robinson Pascoe syndrome
related
Forney syndrome
exact
Forney-Robinson-Pascoe syndrome
exact
cardiospondylocarpofacial syndrome
exact
congenital heart disease, deafness, and skeletal malformations
related
mitral regurgitation-deafness-skeletal anomalies syndrome
exact