Primrose syndrome

Primrose syndrome is a rare, slowly progressive genetic disorder whose features differ from one person to the next. It is generally marked by ossification of the external ears, learning or intellectual disability, hearing problems and distinctive facial features. Movement disorders such as ataxia, paralysis and parkinsonism can occur, likely in part because of calcification of the basal ganglia, along with muscle atrophy and a torus palatinus on the hard palate. The condition was first described in 1982 by Dr D.A.A. Primrose at the Royal National Larbert Institution in Scotland. It appears to arise spontaneously regardless of family history, and the cause is a mutation in the gene ZBTB20. Very few cases have been reported worldwide, and the source states that no treatments are currently known.