Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. It has been reported that mutations in MAP3K7, encoding TGF-beta-activated kinase 1 (TAK1), cause this disease.
