Regression

Gene: CSF1R

Green List (high evidence)

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.

Four unrelated families reported.

Note mono-allelic variants cause an adult-onset disorder.

Created: 5 Nov 2021, 1:54 a.m. | Last Modified: 5 Nov 2021, 1:54 a.m.

Panel Version: 0.381

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS

Publications

• 30982609
• 33749994
• 34135456