Targeted gene under study:



Recently, SCNM1 gene has been involved in oral-facial-digital (OFD) syndrome associated with lobulated tongue, hypodontia, facial dysmorphism, bilateral postaxial polydactyly, brachysyndactyly. We recently diagnosed three novel families with OFD syndrome. Through this call, we are looking to additional cases with ciliopathy, in order to define the clinical phenotype and genotypic spectrum of this rare disorder.

Coordinating clinician

Ange-Line Bruel – 


 CHU Dijon, France

  Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No

3- Linked to a translational/basic research project: No