Miller syndrome

Miller syndrome
Other namesMandibulfacial dysostosis with postaxial limb anomalies
This photo shows person with Miller syndrome, who has typical facial and limb features of this syndrome, such as severe micrognathia, hypoplasia/aplasia of the postaxial rays of the limbs, cleft lip and palate.

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 little is known about its pathogenesis.

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