Cardiospondylocarpofacial Syndrome (CSCF)

Alias:

Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones

Mitral Regurgitation-Hearing Loss-Skeletal Anomalies Syndrome

Mitral Regurgitation-Deafness-Skeletal Anomalies Syndrome

Forney-Robinson-Pascoe Syndrome

Forney Robinson Pascoe Syndrome

Forney Syndrome

Cscf

Mitral Regurgitation Deafness Skeletal Anomalies

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cardiospondylocarpofacial Syndrome, also known as mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones, is related to frontometaphyseal dysplasia and synostosis. An important gene associated with Cardiospondylocarpofacial Syndrome is MAP3K7 (Mitogen-Activated Protein Kinase Kinase Kinase 7), and among its related pathways/superpathways is MAPK signaling pathway. Affiliated tissues include testis and testes, and related phenotypes are abnormal form of the vertebral bodies and high, narrow palate

Related ID：

MALACARDS：CRD221

OMIM：157800

MESH：D006312