Warburg Micro syndrome

Warburg Micro syndrome, also called RAB18 deficiency and classed as a complex hereditary spastic paraplegia, is a rare autosomal recessive genetic disorder. It is characterised by congenital cataract, low muscle tone, spastic diplegia, intellectual or developmental disability, small head size, small corneas, optic atrophy and underdeveloped genitalia. Two copies of an abnormal gene are needed for it to appear, and mutations in any of four genes, RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20, can cause it. Diagnosis is by genetic testing, and the condition should be suspected when cataracts are present at birth and developmental delay is noticed. There is no specific treatment: cataracts are removed surgically, physical and occupational therapy start early, medicines can control seizures, spasticity and digestive problems, and braces and mobility aids support bone health and movement.