| NF1 (von Recklinghausen; commonest) | NF1, chr 17, AD | optic pathway glioma (pilocytic), FASI/UBOs (T2 bright foci in globus pallidus, cerebellum, brainstem; regress), plexiform neurofibromas, sphenoid wing dysplasia ("bare orbit"), dural ectasia, lateral thoracic meningocele, moyamoya | café‑au‑lait (≥ 6), axillary freckling, Lisch nodules, tibial pseudarthrosis/bowing, ribbon ribs, kyphoscoliosis, phaeochromocytoma, GIST, MPNST |
| NF2 | NF2, chr 22, AD | bilateral vestibular schwannomas (diagnostic), other schwannomas, meningiomas (multiple), spinal ependymomas: MISME | posterior subcapsular cataract; few skin signs |
| Tuberous sclerosis | TSC1 (chr 9) / TSC2 (chr 16), AD | cortical/subcortical tubers, subependymal nodules (calcified), SEGA at the foramen of Monro (growing → hydrocephalus; mTOR inhibitors), radial white matter migration lines | renal angiomyolipomas (bilateral, multiple), renal cysts, cardiac rhabdomyoma (fetal/infant), LAM (women), ash‑leaf macules, facial angiofibromas, shagreen patch, periungual fibromas; classic triad epilepsy + learning disability + adenoma sebaceum |
| Von Hippel–Lindau | VHL, chr 3, AD | haemangioblastomas: cerebellum (cyst + enhancing pial nodule), spinal cord (syrinx), retina; endolymphatic sac tumour | clear‑cell RCC (multiple, bilateral; leading cause of death), phaeochromocytoma, pancreatic cysts/serous cystadenoma/NET, epididymal cystadenoma |
| Sturge–Weber (encephalotrigeminal angiomatosis) | GNAQ somatic, sporadic | ipsilateral leptomeningeal angioma (pial enhancement), "tram‑track" gyriform cortical calcification (parieto‑occipital; after 2 years), cerebral atrophy, enlarged ipsilateral choroid plexus, calvarial thickening (Dyke–Davidoff–Masson features) | port‑wine stain (V1), glaucoma, seizures, hemiparesis |
| Ataxia–telangiectasia | ATM, AR | cerebellar atrophy, microbleeds | immunodeficiency, lymphoma |