Clinical Features
Bachmann-Bupp syndrome (BABS) is a neurodevelopmental disorder characterized by alopecia, global developmental delay, hypotonia, nonspecific dysmorphic features, behavioral abnormalities, and feeding difficulties.
Prevalence
Bachmann-Bupp syndrome is an ultra-rare condition and was identified in 2018. The prevalence is not known. Nearly 20 patients with a pathogenic variant in the ODC1 gene have been identified thus far and 11 of those patients have been reported in the literature.
Inheritance
Bachmann-Bupp syndrome is an autosomal dominant disorder typically caused by a de novo pathogenic variant in ODC1. Heterozygous pathogenic variants in ODC1 that cause BABS are thought to be due to gain-of-function variants. To date, no individuals with BABS have been known to reproduce; however, many of those who have been identified are not yet of reproductive age.
ODC1