Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (also known as Primrose syndrome or ossification of the auricles with intellectual disability) is an extremely rare multisystem disorder characterized by the combination of intellectual disability, cataracts, abnormal calcification (ossification) of the external ear cartilage (pinnae), and muscle disease (myopathy). The condition affects multiple body systems including the central nervous system, eyes, musculoskeletal system, and ears. Affected individuals typically present with mild to moderate intellectual disability, progressive bilateral cataracts that can impair vision, hardening of the ear cartilage due to calcium deposition making the pinnae rigid, and proximal muscle weakness. Additional features that have been reported include tall stature, macrocephaly, a characteristic facial appearance with coarse features, hearing loss, and sparse body hair. Some patients may also develop diabetes mellitus and have skeletal abnormalities including joint contractures. This syndrome was first described by Primrose in 1982, and only a very small number of cases have been reported in the medical literature. Molecular studies have identified mutations in the ZBTB20 gene as the underlying genetic cause in some patients. There is currently no specific cure or targeted therapy for this condition. Management is supportive and multidisciplinary, involving ophthalmologic care for cataracts (including surgical removal when indicated), physical therapy and rehabilitation for myopathy, educational support for intellectual disability, and audiologic monitoring for hearing impairment. Regular screening for associated complications such as diabetes is also recommended.

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