Parents

Clinical Features
Bachmann-Bupp syndrome (BABS) is a neurodevelopmental disorder characterized by hair loss (alopecia), global developmental delay, low muscle tone (hypotonia), behavioral differences, and feeding difficulties.

Prevalence
Bachmann-Bupp syndrome is an ultra-rare condition and was recently identified in 2018. To date, nearly 20 patients globally have been identified and it is impossible to estimate how many people have this syndrome. However, it is expected that more patients will be identified thanks to expanded access to genetic testing.

Inheritance
Bachmann-Bupp syndrome caused by pathogenic variants in the ODC1 gene. BABS is expressed in an autosomal dominant manner and affected individuals result from a de novo pathogenic variant (i.e. the change happened in them for the first time and was not inherited), therefore the risk to other family members is presumed to be low. Once an ODC1 pathogenic variant has been identified in an affected family member, prenatal testing and preimplantation genetic testing are possible.