has material basis in germline mutation in MAP3K7 cardiospondylocarpofacial syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/cardiospondylocarpofacial_syndrome SCTID:720612000 GARD:0002362 cardiospondylocarpofacial syndrome CSCF MONDO:0008005 NCIT:C188216 MESH:C563572 Forney Robinson Pascoe syndrome mitral regurgitation-deafness-skeletal anomalies syndrome UMLS:C2931461 OMIM:157800 Orphanet:3238 congenital heart disease, deafness, and skeletal malformations MEDGEN:444060 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. Forney syndrome Forney-Robinson-Pascoe syndrome filamin-related bone disorder