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GTR Home > Conditions/Phenotypes > Cardiospondylocarpofacial syndrome

Cardiospondylocarpofacial syndrome

Synonyms
Congenital heart disease, deafness, and skeletal malformations; Forney Robinson Pascoe syndrome; Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by Le Goff et al., 2016). [from OMIM]

Available tests

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CSCF, FMD2, MEKK7, TAK1, TGF1a, MAP3K7
    Summary: mitogen-activated protein kinase kinase kinase 7

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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