Rare diseases · Sign or symptom
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
HP:0002120
What it means
Atrophy of the cortex of the cerebrum.
Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging.
Rare diseases that can present with this144
Very common80–99%
31- 1p36deletion syndrome
- Acrodermatitis enteropathica
- Acrofrontofacionasal dysostosis
- Angelman syndrome
- Autosomal recessive spastic paraplegia type 78
- Axial mesodermal dysplasia spectrum
- COFS syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Early-onset autosomal dominant Alzheimer disease
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Fragile X-associated tremor/ataxia syndrome
- Histidinuria-renal tubular defect syndrome
- Hydranencephaly
- Infantile spasms-broad thumbs syndrome
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- Mevalonic aciduria
- Microcephaly-brain defect-spasticity-hypernatremia syndrome
- Miller-Dieker syndrome
- Nasu-Hakola disease
- Olivopontocerebellar atrophy-deafness syndrome
- PEHO syndrome
- Pelizaeus-Merzbacher disease
- Penoscrotal transposition
- Phakomatosis pigmentovascularis
- Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
- Ring chromosome 7 syndrome
- Sneddon syndrome
- Sporadic fetal brain disruption sequence
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
- X-linked intellectual disability, Cantagrel type
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Common30–79%
49- Acrocardiofacial syndrome
- Allergic bronchopulmonary aspergillosis
- Alpha-N-acetylgalactosaminidase deficiency
- Ataxia-deafness-intellectual disability syndrome
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Autosomal recessive spastic ataxia with leukoencephalopathy
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 26
- Autosomal recessive spastic paraplegia type 46
- Autosomal recessive spastic paraplegia type 67
- Autosomal recessive spastic paraplegia type 69
- Aymé-Gripp syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Caribbean parkinsonism
- Cerebrofaciothoracic dysplasia
- Christianson syndrome
- CLCN4-related X-linked intellectual disability syndrome
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Congenital muscular dystrophy with intellectual disability
- Congenital unilateral hypoplasia of depressor anguli oris
- Congenital varicella syndrome
- Costello syndrome
- Cyanide-induced parkinsonism-dystonia
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Encephalocraniocutaneous lipomatosis
- FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
- Fryns syndrome
- Harrod syndrome
- Hereditary cerebral amyloid angiopathy
- Homocystinuria without methylmalonic aciduria
- Hoyeraal-Hreidarsson syndrome
- Huntington disease-like 3
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Intellectual disability syndrome due to a DYRK1A point mutation
- Kabuki syndrome
- Kufor-Rakeb syndrome
- Microlissencephaly
- Micro syndrome
- Morgagni-Stewart-Morel syndrome
- NARP syndrome
- Orofaciodigital syndrome type 4
- Progressive supranuclear palsy
- Pseudo-TORCH syndrome type 1
- Sandhoff disease, infantile form
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- Severe intellectual disability and progressive spastic paraplegia
- SLC39A8-CDG
- TMEM70-related mitochondrial encephalo-cardio-myopathy
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 2 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cerebral cortex atrophy · Cortical atrophy
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.