Primrose syndrome

Primrose syndrome
Other namesIntellectual disability-cataracts-calcified pinnae-myopathy syndrome
Primrose syndrome is inherited via an autosomal dominant manner

Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. It was first described in 1982 in Scotland's Royal National Larbert Institution by Dr D.A.A. Primrose.

Primrose syndrome appears to occur spontaneously, regardless of family history. The cause is a mutation in the gene ZBTB20 and there are no known treatments.

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