Orofaciodigital Syndrome 1 - Cause and Genetics

Cause and Genetics

Orofaciodigital syndrome type 1 is caused by mutations in the OFD1 gene. OFD1 localizes to both centrosomes and basal bodies within the human genetic cellular structure. This suggests that this syndrome may fall into a broad category of ciliary diseases. The ciliary organelles are present in many cellular types throughout the human body. The cilia defects adversely affect numerous critical developmental signaling pathways essential to cellular development.

Other types include:

• OMIM: 252100 Mohr syndrome; Orofaciodigital syndrome 2 at NIH's Office of Rare Diseases
• OMIM: 258860 Orofaciodigital syndrome 4 at NIH's Office of Rare Diseases
• OMIM: 300238 Orofaciodigital syndrome, Shashi type at NIH's Office of Rare Diseases
• OMIM: 277170 Varadi Papp syndrome; OFD6 at NIH's Office of Rare Diseases