Orphanet: Syndrome cardio spondylo carpo facial

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Cardiospondylocarpofacial syndrome

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.


Classification level: Disorder
  • 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: -
  • OMIM: 157800
  • UMLS: C1834818  C2931461
  • MeSH: -
  • GARD: 2362
  • MedDRA: -
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