A diagram of the structure of a primary cilium Due to generational familial linkage and the frequency of siblings sharing inheritance of<unk> , it is classified as an autosomal recessive disorder.<unk>  is a ciliopathy, a group of diseases categorized by irregular behavior of the primary cilia, which are involved in cell division, transportation, communication and tissue differentiation. This leads to irregular tissue growth in organs and various other diseases. 83% of<unk>  carriers presented with either one or two mutations on the MKS3 gene, and findings suggest this is where most of the symptoms can be accredited. CC2D2A and RPGRIP1L genes may also have some minor contributions, with around 8.7% reporting a mutation on the CC2D2A gene and 4.3% on the RPGRIP1L gene. These three genetic mutations reportedly cover 96% of families suffering from<unk> .
COACH syndrome
Adams–Stokes syndrome
MOMO syndrome
Wunderlich syndrome
Hopkins syndrome
PHACE syndrome
Edwards syndrome
PEHO syndrome