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.

[4] The common symptoms in all reported cases of primrose syndrome include ossified pinnae, learning disabilities or intellectual disability, hearing problems, movement disorders (ataxia, paralysis, and parkinsonism among others—likely due, in part, to calcification of the basal ganglia), a torus palatinus (a neoplasm on the mouth's hard palate), muscle atrophy, and distorted facial features.

This suggests that the thyroid gland is releasing an abnormal amount of calcitonin, resulting in the disruption of calcium level homeostasis.

Additional symptoms included muscle atrophy in the legs and hands, deafness, cataracts, and a tissue mass covering the roof of his mouth.

The patient was an intellectual disabled 43-year-old woman who had hearing impairment, distorted facial features, muscle atrophy, cataracts, and ossification of cartilage.

Additionally, she was born with Ebstein malformation, a congenital heart defect, agenesis of the corpus callosum, and hip dysplasia.