Professionals

Mutations in OFD1 are responsible for Oral-facial-digital type I syndrome (OFD type I; OFDI; OFDSI) a developmental disorder displaying facial dysmorphism, defects of the oral cavity and skeletal abnormalities. Involvement of the central nervous system with malformations and mental retardation can be observed as well as cystic disease affecting kidneys, ovary, pancreas and liver. The disease is transmitted as a X-linked dominant male lethal disorder and has an incidence of 1:50.000-1:250.000 individuals. It has been observed in all ethnic backgrounds.