Rare diseases · Sign or symptom
Ventriculomegaly
HP:0002119
What it means
An increase in size of the ventricular system of the brain.
Rare diseases that can present with this256
Very common80–99%
31- 1p31p32microdeletion syndrome
- 1p36deletion syndrome
- 49,XXXYY syndrome
- 49,XYYYY syndrome
- Bilateral frontoparietal polymicrogyria
- Bonnemann-Meinecke-Reich syndrome
- Cutaneous mastocytosis-deafness-microtia syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Histidinuria-renal tubular defect syndrome
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Isolated rhombencephalosynapsis
- Linear nevus sebaceus syndrome
- Lissencephaly due to TUBA1A mutation
- Microcephalic primordial dwarfism due to ZNF335 deficiency
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mosaic variegated aneuploidy syndrome
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Multiple mitochondrial dysfunctions syndrome type 5
- Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
- Nasu-Hakola disease
- Olivopontocerebellar atrophy-deafness syndrome
- Porencephaly
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Trisomy 5p syndrome
- Walker-Warburg syndrome
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
- Xq12-q13.3 duplication syndrome
Common30–79%
49- 14q22q23microdeletion syndrome
- 16q24.3microdeletion syndrome
- 19p13.12microdeletion syndrome
- 1q44microdeletion syndrome
- 3C syndrome
- 5q14.3microdeletion syndrome
- 7q11.23microduplication syndrome
- Acromelic frontonasal dysplasia
- Aicardi-Goutières syndrome
- Aicardi syndrome
- Amish lethal microcephaly
- Ataxia-deafness-intellectual disability syndrome
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Autosomal recessive primary microcephaly
- Aymé-Gripp syndrome
- Bilateral polymicrogyria
- Caribbean parkinsonism
- Cerebellar-facial-dental syndrome
- Cerebrofaciothoracic dysplasia
- Christianson syndrome
- Chudley-McCullough syndrome
- Coffin-Lowry syndrome
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Congenital hydrocephalus
- Congenital muscular dystrophy, Fukuyama type
- Congenital-onset Steinert myotonic dystrophy
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- CTCF-related neurodevelopmental disorder
- Curry-Jones syndrome
- Desmosterolosis
- DYRK1A-related intellectual disability syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Encephalocraniocutaneous lipomatosis
- FG syndrome type 1
- Fryns syndrome
- Fumaric aciduria
- Hemimegalencephaly
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Houge-Janssens syndrome type 2
- Hoyeraal-Hreidarsson syndrome
- Huntington disease-like 1
- Infantile osteopetrosis with neuroaxonal dysplasia
- Intellectual disability syndrome due to a DYRK1A point mutation
- Isolated lissencephaly type 1 without known genetic defects
- Isolated sedoheptulokinase deficiency
- Jacobsen syndrome
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy
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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cerebral ventricular dilatation · Dilated cerebral ventricle · Dilated cerebral ventricles · Dilated ventricles · Enlarged cerebral ventricles · Enlarged ventricles · Enlarged ventricular system · Large cerebral ventricles and cisternae
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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.