Ventriculomegaly

Symptom Information:

Symptom ID: HPO:0002119
Synonyms:
Cerebral ventricular dilatation [HPO:0002119]
Dilated cerebral ventricle [HPO:0002119]
Dilated cerebral ventricles [HPO:0002119]
Dilated ventricles [HPO:0002119]
Enlarged cerebral ventricles [HPO:0002119]
Enlarged ventricles [HPO:0002119]
Enlarged ventricular system [HPO:0002119]
Large cerebral ventricles and cisternae [HPO:0002119]
Ventricular dilatation [HPO:0002119]
Cerebral ventriculomegaly (disorder) [Orphanet:42390]
Cerebral ventriculomegaly [Orphanet:42390]
Dilated cerebral ventricles [OMIM:Dilated cerebral ventricles]
Dilated ventricles [OMIM:Dilated ventricles]
Enlarged cerebral ventricles [OMIM:Enlarged cerebral ventricles]
Enlarged ventricles [OMIM:Enlarged ventricles]
Enlarged ventricular system [OMIM:Enlarged ventricular system]
Large cerebral ventricles and cisternae [OMIM:Large cerebral ventricles and cisternae]
Ventricular dilatation [OMIM:Ventricular dilatation]
Ventriculomegaly [OMIM:Ventriculomegaly]
Dilated cerebral ventricles without hydrocephaly [Orphanet:42390]
Cerebral ventricle dilatation [MedDRA:10048824]
Cerebral ventriculomegaly [MedDRA:10048824]
Enlarged ventricles (1 patient) [OMIM:Enlarged ventricles (1 patient)]
Enlarged ventricles (57%) [OMIM:Enlarged ventricles (57%)]
Enlarged ventricles (in some) [OMIM:Enlarged ventricles (in some)]
Ventricular dilatation (29%) [OMIM:Ventricular dilatation (29%)]
Ventricular dilatation (rare) [OMIM:Ventricular dilatation (rare)]
Ventriculomegaly (38%) [OMIM:Ventriculomegaly (38%)]
Ventriculomegaly (in some patients) [OMIM:Ventriculomegaly (in some patients)]
Ventriculomegaly (variable) [OMIM:Ventriculomegaly (variable)]
Dilatation ventricular [MedDRA:10013012]
Quality:
Cross references:
Orphanet:42390 "Dilated cerebral ventricles without hydrocephaly" [Orphanet:42390]
OMIM: "Dilated cerebral ventricles" [OMIM:Dilated cerebral ventricles]
OMIM: "Dilated ventricles" [OMIM:Dilated ventricles]
OMIM: "Enlarged cerebral ventricles" [OMIM:Enlarged cerebral ventricles]
OMIM: "Enlarged ventricles" [OMIM:Enlarged ventricles]
OMIM: "Enlarged ventricular system" [OMIM:Enlarged ventricular system]
OMIM: "Large cerebral ventricles and cisternae" [OMIM:Large cerebral ventricles and cisternae]
OMIM: "Ventricular dilatation" [OMIM:Ventricular dilatation]
OMIM: "Ventriculomegaly" [OMIM:Ventriculomegaly]
OMIM: "Enlarged ventricles (1 patient)" [OMIM:Enlarged ventricles (1 patient)]
OMIM: "Enlarged ventricles (57%)" [OMIM:Enlarged ventricles (57%)]
OMIM: "Enlarged ventricles (in some)" [OMIM:Enlarged ventricles (in some)]
OMIM: "Ventricular dilatation (29%)" [OMIM:Ventricular dilatation (29%)]
OMIM: "Ventricular dilatation (rare)" [OMIM:Ventricular dilatation (rare)]
OMIM: "Ventriculomegaly (38%)" [OMIM:Ventriculomegaly (38%)]
OMIM: "Ventriculomegaly (in some patients)" [OMIM:Ventriculomegaly (in some patients)]
OMIM: "Ventriculomegaly (variable)" [OMIM:Ventriculomegaly (variable)]
UMLS:C1531647 "Ventriculomegaly" [HPO:0002119]
UMLS:C1531647 "Cerebral ventriculomegaly" [Orphanet:42390]
Is a (Direct Parents):
Orphanet Structural anomalies of the nervous system
MedDRA Structural brain disorders NEC
MedDRA Myocardial disorders NEC
HPO         Abnormality of the cerebral ventricles
Is a (Whole tree): HPO:
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Structural brain disorders(MedDRA:10042258)
       Structural brain disorders NEC(MedDRA:10042259)
          Ventriculomegaly(HPO:0002119)
Cardiac disorders(MedDRA:10007541)
    Abnormality of the myocardium(HPO:0001637)
       Myocardial disorders NEC(MedDRA:10028590)
          Ventriculomegaly(HPO:0002119)
Database Frequency: 253 / 7739
Resource:

All diseases associated with this symptom:

14q22q23 microdeletion syndrome (Orphanet:264200)
16p13.11 microdeletion syndrome (Orphanet:261236)
16q24.3 microdeletion syndrome (Orphanet:261250)
17p13.3 microduplication syndrome (Orphanet:217385)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
1q44 microdeletion syndrome (Orphanet:238769)
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
20p12.3 microdeletion syndrome (Orphanet:261295)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q31.1 microdeletion syndrome (Orphanet:251014)
3-hydroxyisobutyric aciduria (Orphanet:939)
3C syndrome (Orphanet:7)
3q13 microdeletion syndrome (Orphanet:1621)
48,XXYY syndrome (Orphanet:10)
4q21 microdeletion syndrome (Orphanet:238750)
5q14.3 microdeletion syndrome (Orphanet:228384)
6q25 microdeletion syndrome (Orphanet:251056)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT (OMIM:206570)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
Absent tibia - polydactyly - arachnoid cyst (Orphanet:3328)
Achondroplasia (Orphanet:15)
Acromelic frontonasal dysplasia (Orphanet:1827)
Adams-Oliver syndrome (Orphanet:974)
Aicardi syndrome (Orphanet:50)
Alpers syndrome (Orphanet:726)
Amelo-cerebro-hypohidrotic syndrome (Orphanet:1946)
Amish lethal microcephaly (Orphanet:99742)
Apert syndrome (Orphanet:87)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (Orphanet:363429)
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet:324262)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BRESEK syndrome (Orphanet:85284)
Baraitser-Winter syndrome (Orphanet:2995)
Berardinelli-Seip congenital lipodystrophy (Orphanet:528)
Bifunctional enzyme deficiency (Orphanet:300)
Bilateral striopallidodentate calcinosis (Orphanet:1980)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Bohring-Opitz syndrome (Orphanet:97297)
Bonnemann-Meinecke-Reich syndrome (Orphanet:1261)
Bowen-Conradi syndrome (Orphanet:1270)
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2 (OMIM:612900)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
COG8-CDG (Orphanet:95428)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Campomelic dysplasia (Orphanet:140)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Catel-Manzke syndrome (Orphanet:1388)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Choreoacanthocytosis (Orphanet:2388)
Christianson syndrome (Orphanet:85278)
Chudley-McCullough syndrome (Orphanet:314597)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Combined immunodeficiency with facio-oculo-skeletal anomalies (Orphanet:221139)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Combined oxidative phosphorylation defect type 2 (Orphanet:254920)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital hydrocephalus (Orphanet:2185)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital muscular dystrophy with cerebellar involvement (Orphanet:370959)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Congenital toxoplasmosis (Orphanet:858)
Cornelia de Lange syndrome (Orphanet:199)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Costello syndrome (Orphanet:3071)
Crane-Heise syndrome (Orphanet:1512)
Craniofacial dyssynostosis (Orphanet:1516)
Craniomicromelic syndrome (Orphanet:1524)
Curry-Jones syndrome (Orphanet:1553)
Cystic leukoencephalopathy without megalencephaly (Orphanet:85136)
D,L-2-hydroxyglutaric aciduria (Orphanet:356978)
Deafness - genital anomalies - metacarpal and metatarsal synostosis (Orphanet:3224)
Desmosterolosis (Orphanet:35107)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY (OMIM:600906)
ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS (OMIM:600907)
Early infantile epileptic encephalopathy (Orphanet:1934)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
FANCONI ANEMIA, COMPLEMENTATION GROUP B (OMIM:300514)
Facial asymmetry - temporal seizures (Orphanet:1167)
Familial scaphocephaly syndrome, McGillivray type (Orphanet:168624)
Fanconi anemia (Orphanet:84)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Femoral-facial syndrome (Orphanet:1988)
Fetal Gaucher disease (Orphanet:85212)
Fine-Lubinsky syndrome (Orphanet:1272)
Fowler syndrome (Orphanet:221126)
Fryns syndrome (Orphanet:2059)
GM1 gangliosidosis type 2 (Orphanet:79256)
Gaucher disease (Orphanet:355)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Goldenhar syndrome (Orphanet:374)
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 (OMIM:236600)
HYDROLETHALUS SYNDROME 2 (OMIM:614120)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (OMIM:614749)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Histidinuria - renal tubular defect (Orphanet:2158)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Infantile epileptic-dyskinetic encephalopathy (Orphanet:364063)
Intellectual deficit - hypoplastic corpus callosum - preauricular tag (Orphanet:1495)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome 9 (OMIM:612285)
Kabuki syndrome (Orphanet:2322)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Knobloch syndrome (Orphanet:1571)
Koolen-De Vries syndrome (Orphanet:96169)
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA (OMIM:608809)
LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
Langer-Giedion syndrome (Orphanet:502)
Left ventricular noncompaction 8 (OMIM:615373)
Leigh syndrome with leukodystrophy (Orphanet:255241)
Linear nevus sebaceus syndrome (Orphanet:2612)
Linear verrucous nevus syndrome (Orphanet:2611)
Lissencephaly due to LIS1 mutation (Orphanet:95232)
Lissencephaly due to TUBA1A mutation (Orphanet:171680)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY (OMIM:606369)
MACROCEPHALY, BENIGN FAMILIAL (OMIM:153470)
MASA syndrome (Orphanet:2466)
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A (OMIM:613925)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
MELAS (Orphanet:550)
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY (OMIM:615760)
MICROHYDRANENCEPHALY (OMIM:605013)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEMATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS (OMIM:601170)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 (OMIM:613154)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 (OMIM:614830)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 (OMIM:613151)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
Marden-Walker syndrome (Orphanet:2461)
Marshall-Smith syndrome (Orphanet:561)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - glomerulonephritis - marfanoid habitus (Orphanet:2172)
Microcephaly - seizures - developmental delay (Orphanet:228418)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Monosomy 18q (Orphanet:1600)
Monosomy 22q13 (Orphanet:48652)
Monosomy 9q22.3 (Orphanet:77301)
Mosaic trisomy 9 (Orphanet:99776)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Moyamoya disease (Orphanet:2573)
Mulibrey nanism (Orphanet:2576)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple sulfatase deficiency (Orphanet:585)
Nasu-Hakola disease (Orphanet:2770)
Native American myopathy (Orphanet:168572)
Neu-Laxova syndrome (Orphanet:2671)
Neurocutaneous melanocytosis (Orphanet:2481)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculocerebrorenal syndrome (Orphanet:534)
Olivopontocerebellar atrophy - deafness (Orphanet:2732)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 8 (Orphanet:2755)
PEHO syndrome (Orphanet:2836)
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
PORENCEPHALY 2 (OMIM:614483)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Peters-plus syndrome (Orphanet:709)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Porencephaly (Orphanet:2940)
Porencephaly-microcephaly-bilateral congenital cataract syndrome (Orphanet:306547)
Prader-Willi syndrome (Orphanet:739)
Premature chromosome condensation with microcephaly and intellectual deficit (Orphanet:52183)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Pyridoxine-dependent epilepsy (Orphanet:3006)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Recombinant 8 syndrome (Orphanet:96167)
Rhombencephalosynapsis (Orphanet:59315)
SOTOS SYNDROME 1 (OMIM:117550)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Sanjad-Sakati syndrome (Orphanet:2323)
Schinzel-Giedion syndrome (Orphanet:798)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Sotos syndrome (Orphanet:821)
Spasticity - intellectual deficit - X-linked epilepsy (Orphanet:3175)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)
TENORIO SYNDROME (OMIM:616260)
TMCO1 defect syndrome (Orphanet:228407)
TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS (OMIM:611808)
Temtamy syndrome (Orphanet:1777)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Trisomy 1q (Orphanet:261344)
Trisomy 5p (Orphanet:1742)
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY (OMIM:602200)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
Walker-Warburg syndrome (Orphanet:899)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome 1 (OMIM:222300)
X-linked Emery-Dreifuss muscular dystrophy (Orphanet:98863)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
XYLOSIDASE DEFICIENCY (OMIM:278900)
Xeroderma pigmentosum complementation group B (Orphanet:276252)
Yunis-Varon syndrome (Orphanet:3472)