Miller syndrome

Disease Overview

Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner.[7431]

Synonyms

• Genee-Wiedemann acrofacial dysostosis
• GWAFD
• Genee-Wiedemann syndrome
• Wildervanck-Smith syndrome
• Postaxial acrofacial dysostosis (POADS) syndrome
• POADS syndrome