PhenomeGene — Human Disease Gene Website SeriesCSF1R BANDDOS

Management

Management:
For BANDDOS syndrome, there are currently no effective treatments available. Key considerations include:
•    Early detection of behavioral abnormalities
•    Regular neuroimaging and functional assessments
•    Periodic skeletal and metabolic evaluations

Genetic Counselling:
BANDDOS syndrome caused by bi-allelic CSF1Rmutations follows an autosomal recessive inheritance pattern. If both parents are asymptomatic carriers (each carrying one mutation), their offspring have a 25% risk of being affected. Notably, mono-allelic mutations of CSF1Rcan cause another disease named adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), the possible neural phenotypes and the late-onset risk in the parental carriers should be evaluated carefully and well-informed.