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Cardiospondylocarpofacial syndrome

Synonym(s) Forney syndrome
Forney-Robinson-Pascoe syndrome
Mitral regurgitation-deafness-skeletal anomalies syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset All ages
ICD-10 -
MeSH -
MedDRA -


Disease 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.

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