Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 1 (OFD1) is a rare neuronal developmental disorder in the ciliary pathology group.

Originally, X-linked dominant mutations in the OFD1 gene play a role in embryonic development. Affected male persons die prenatally. Anomalies in the female sex are expressed differently, and their severity is very variable. Typical are external malformations (craniofacial and digital), involvement of CNS and internal organs (especially kidneys, pancreas, liver, ovaries).

CNS involvement can lead to mild to moderate mental retardation. OFD1 can be distinguished from other types of Oro-fazio-digital syndrome by its inheritance pattern and the occurrence of polycystic kidney disease.