Targeted gene(s)/phenotype under study

  • Gene: MAP3K7 (OMIM 602614) 


Cardiospondylocarpofacial (CSCF) syndrome is an ultra-rare disorder characterized by growth retardation, dysmorphic facial features, skeletal anomalies, cardiac septal defects with valve dysplasia, and deafness. It is caused by heterozygous MAP3K7 To date very few patients have been described and the phenotype in adults is not well–known.

We would like to coellect more patients with this disorder.

Coordinating clinicians/researchers: 

Dr Hilde Van Esch



Center for Human Genetics
University Hospitals Leuven,
3000 Leuven, Belgium

Specific requirements beyond clinical data and genotype data sharing

  • Re-analysis of DNA samples: No
  • Resampling of patients:No
  • Linked to a translational/basic research project? No