Miller's syndrome or post-axial acrophacial dysostosis is a presumably very rare syndrome whose cause (pathogenesis) is unknown to date. History
In 1969, Miller's syndrome was first described by E. Genée, who considered it as an extreme form of dysostosis mandibulophacialis. However, in 1975 Wiedemann described it as a separate disorder. In 1987, the disorder was renamed Genée-Wiedemann's syndrome. Cause
The syndrome is caused by the gene DHODH, which is at position 16q22 on chromosome 16 and encodes the enzyme dihydro orotate dehydrogenase. This enzyme, together with the enzyme ubichinon, controls the oxidation of dihydro orotate to orotate, the fourth phase in the pyrimidine biosynthesis process. In 1910 a deviation of this gene was noted for banana flying. The associated symptoms were malformed hind legs, wing abnormalities and a disturbed oögenesis. Features
Miller's syndrome is characterized by a severe form of micrognathy, dyspnoea, lack of part of the eyelids and additional nipples. Other additional abnormalities include: an excess of vertebrae, heart and ribs abnormalities (such as ventricular septal defect and open ductus arteriosus) and pulmonary disease due to chronic infections.
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