Families

Primrose syndrome is a neurodevelopmental disorder associated with multiple congenital malformations. The main clinical features are mild-to-moderate developmental delay/ intellectual disability, behavior abnormalities, hypotonia, muscle wasting, joint contracture, progressive ataxia, and distinctive facial features. Other less frequent complications include hearing loss or deafness, corpus callosal abnormalities detected by brain MRI, auricular calcification, hypothyroidism, recurrent otitis media, diabetes mellitus, cataracts, low serum testosterone levels.

Prevalence of this syndrome is unknown but quite rare. Previously, only 22 patients have been reported. ZBTB20 is the gene responsible for this syndrome. Because previously reported patients with this syndrome showed heterozygous missense variants in ZBTB20 with de novooccurrences, autosomal dominant trait with dominant negative mechanism is considered as the mechanism.