With less than 75 documented cases worldwide, the Miller Syndrome or postaxial acrofacial dysostosis constitutes a very rare orphan disease. It manifests itself upon birth and is characterized, amongst others, by peculiarities such as abnormalities of the limbs, the cheeckbones, the ears and lids, the cleft palate and/or cleft lip as well as deafness.

The disease is inherited recessively, meaning that a child can only fall ill when both parents are carriers of the defect gene. In a study conducted in 2010 the number of possible defect genes could be reduced to four. This success was achieved by a research team headed by Jared Roach and David Galas from the Institute for Systems Biology in Seattle and Lynn Jorde from the University of Utah. For the first time, these researchers were able to decode the genotype of an entire family in which the two children fell ill with the Miller Syndrome whereas the parents are both only carriers of the defect gene.