Miller syndrome

Miller syndrome
Other namesMandibulfacial dysostosis with postaxial limb anomalies
This condition is inherited in an autosomal recessive manner.

Miller syndrome, also known as Genée–Wiedemann syndrome, Wildervanck–Smith syndrome or postaxial acrofacial dysostosis, is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation in the DHODH gene. The incidence of the condition is not known, and nothing is known about its pathogenesis.