Miller syndrome

Miller syndrome, also called Genée-Wiedemann syndrome, Wildervanck-Smith syndrome or postaxial acrofacial dysostosis, is an extremely rare genetic condition affecting the face, limbs and eyes. It is caused by a recessive mutation in the DHODH gene on chromosome 16, which encodes an enzyme needed for building pyrimidines in cells. Features include a very small lower jaw, cleft lip or palate, missing or underdeveloped bones on the outer side of the hands and feet, eyelid coloboma, downslanting eyelid openings, malformed ears and extra nipples. Some people also have vertebral and rib defects, heart defects and lung disease from chronic infection. The condition was first described in 1969 by Ekkart Genée, who took it for an extreme form of Treacher Collins syndrome, and Hans-Rudolf Wiedemann described it as a separate entity in 1975. A family with Miller syndrome was the first to have its whole genome sequenced.