MCID: RHM015
MIFTS: 28

Rhombencephalosynapsis

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rhombencephalosynapsis

MalaCards integrated aliases for Rhombencephalosynapsis:

Name: Rhombencephalosynapsis 59 73

Characteristics:

Orphanet epidemiological data:

59
rhombencephalosynapsis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Rhombencephalosynapsis

MalaCards based summary : Rhombencephalosynapsis is related to gomez-lopez-hernandez syndrome and hydrocephalus. An important gene associated with Rhombencephalosynapsis is ZIC2 (Zic Family Member 2). Affiliated tissues include brain, eye and uterus, and related phenotypes are macrocephaly and hypertelorism

Related Diseases for Rhombencephalosynapsis

Diseases related to Rhombencephalosynapsis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 gomez-lopez-hernandez syndrome 11.3
2 hydrocephalus 10.2
3 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
4 holoprosencephaly 10.1
5 dandy-walker complex 10.1
6 strabismus 9.9
7 torticollis 9.9
8 ataxia and polyneuropathy, adult-onset 9.9
9 craniosynostosis 9.9
10 hemangioma 9.9
11 polycystic kidney disease 9.9
12 microcephaly 9.9
13 obstructive hydrocephalus 9.9
14 epilepsy 9.9
15 gangliosidosis gm1 9.9
16 kidney disease 9.9
17 autosomal dominant polycystic kidney disease 9.9
18 tetrasomy 9p 9.9
19 hypotonia 9.9

Graphical network of the top 20 diseases related to Rhombencephalosynapsis:



Diseases related to Rhombencephalosynapsis

Symptoms & Phenotypes for Rhombencephalosynapsis

Human phenotypes related to Rhombencephalosynapsis:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
4 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
7 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
8 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
9 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
10 abnormality of the cardiovascular system 59 32 occasional (7.5%) Occasional (29-5%) HP:0001626
11 ventriculomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002119
12 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
13 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
14 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
15 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
16 abnormality of the uterus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000130
17 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
18 microretrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000308
19 complete duplication of thumb phalanx 59 32 occasional (7.5%) Occasional (29-5%) HP:0009943
20 esophageal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002032
21 abnormal renal morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012210
22 short phalanx of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0009803
23 septo-optic dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100842
24 agenesis of cerebellar vermis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002335
25 polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0010442
26 fusion of the cerebellar hemispheres 59 32 hallmark (90%) Very frequent (99-80%) HP:0006899
27 fusion of the left and right thalami 59 32 frequent (33%) Frequent (79-30%) HP:0010664
28 abnormality of the dentate nucleus 59 32 hallmark (90%) Very frequent (99-80%) HP:0100321
29 abnormality of the eye 59 Occasional (29-5%)
30 abnormality of the face 59 Occasional (29-5%)

Drugs & Therapeutics for Rhombencephalosynapsis

Search Clinical Trials , NIH Clinical Center for Rhombencephalosynapsis

Genetic Tests for Rhombencephalosynapsis

Anatomical Context for Rhombencephalosynapsis

MalaCards organs/tissues related to Rhombencephalosynapsis:

41
Brain, Eye, Uterus, Kidney, Bone, Cerebellum

Publications for Rhombencephalosynapsis

Articles related to Rhombencephalosynapsis:

(show top 50) (show all 76)
# Title Authors Year
1
Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis. ( 29760006 )
2018
2
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis. ( 30340542 )
2018
3
Ataxia and developmental delay as the main manifestation of rhombencephalosynapsis. ( 30186561 )
2018
4
Prenatal aqueduct stenosis: Association with rhombencephalosynapsis and neonatal outcome. ( 30229955 )
2018
5
A rare case of rhombencephalosynapsis and prenatal diagnosis. ( 27012487 )
2016
6
Rhombencephalosynapsis: A rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. ( 27841240 )
2016
7
Prenatal Magnetic Resonance Imaging of Atypical Partial Rhombencephalosynapsis with Involvement of the Anterior Vermis: Two Case Reports. ( 26479763 )
2015
8
Fetal Diagnosis of Rhombencephalosynapsis. ( 26535873 )
2015
9
Rhombencephalosynapsis: a rare congenital anomaly presenting with seizure and developmental delay. ( 26013386 )
2015
10
Rhombencephalosynapsis. ( 25816977 )
2015
11
Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. ( 24633306 )
2014
12
GA^mez-LA^pez-hernA!ndez syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone. ( 24311025 )
2014
13
Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. ( 24105968 )
2013
14
Rhombencephalosynapsis: embryopathology and management strategies of associated neurosurgical conditions with a review of the literature. ( 23331215 )
2013
15
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis. ( 24167461 )
2013
16
Beyond GA^mez-LA^pez-HernA!ndez syndrome: recurring phenotypic themes in rhombencephalosynapsis. ( 22965664 )
2012
17
An Atypical Case of Chiari II Malformation Mimicking Partial Rhombencephalosynapsis. ( 24029087 )
2012
18
Rhombencephalosynapsis: new findings in a larger study. ( 22492564 )
2012
19
Rhombencephalosynapsis - isolated anomaly or complex malformation? ( 23049579 )
2012
20
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. ( 22451504 )
2012
21
Partial rhombencephalosynapsis and Chiari type II malformation in a child: a true association supported by DTI tractography. ( 21833660 )
2012
22
Rhombencephalosynapsis in a patient with mental retardation, epilepsy, and dysmorphisms. ( 21057840 )
2011
23
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. ( 21638761 )
2011
24
ZIC2 mutations are seen in holoprosencephaly and not partial rhombencephalosynapsis. ( 21990207 )
2011
25
Partial rhombencephalosynapsis: prenatal MR imaging diagnosis and postnatal follow up. ( 21748940 )
2011
26
Aprosencephaly with rhombencephalosynapsis and hamartomatous midbrain dysplasia. ( 20102515 )
2010
27
Chiari II malformation mimicking partial rhombencephalosynapsis? A case report. ( 19821003 )
2010
28
Rhombencephalosynapsis with and without associated malformations. ( 19137321 )
2009
29
Truncal ataxia, hypotonia, and motor delay with isolated rhombencephalosynapsis. ( 19664545 )
2009
30
&amp;quot;Rhombencephalosynapsis associated with Dandy-Walker malformation&amp;quot; is a molar tooth malformation. ( 18482366 )
2009
31
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. ( 19057916 )
2009
32
Cognitive outcome in children with rhombencephalosynapsis. ( 18407532 )
2009
33
Reactivity to visual signals and the cerebellar vermis: Evidence from a rare case with rhombencephalosynapsis. ( 19170433 )
2009
34
Atypical craniosynostosis with torticollis and neurological symptoms: a rhombencephalosynapsis sequence. ( 20029674 )
2009
35
Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1. ( 19035693 )
2008
36
Rhombencephalosynapsis. ( 18809018 )
2008
37
Rhombencephalosynapsis: association with single umbilical artery. ( 18810339 )
2008
38
Neuro-ophthalmologic findings in patients with rhombencephalosynapsis. ( 18155944 )
2008
39
Rhombencephalosynapsis associated with infantile strabismus. ( 18306119 )
2008
40
Case of the month #141. Rhombencephalosynapsis. ( 19385157 )
2008
41
Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy. ( 18953648 )
2008
42
Reduced vision as a presenting feature of rhombencephalosynapsis. ( 18930670 )
2008
43
Rhombencephalosynapsis: prenatal imaging and autopsy findings. ( 18409180 )
2008
44
Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-LA^pez-HernA!ndez syndrome. ( 17159510 )
2007
45
Rhombencephalosynapsis diagnosed in childhood: clinical and MRI findings. ( 17097321 )
2007
46
Rhombencephalosynapsis associated with Dandy-Walker malformation. ( 17894629 )
2007
47
Partial Rhombencephalosynapsis of the Superior Cerebellum Associated with GM1 Gangliosidosis. ( 24299640 )
2007
48
Partial rhombencephalosynapsis and Chiari II malformation. ( 16085948 )
2005
49
Normal IQ in a 55-year-old with newly diagnosed rhombencephalosynapsis. ( 15905069 )
2005
50
A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies. ( 16138255 )
2005

Variations for Rhombencephalosynapsis

Expression for Rhombencephalosynapsis

Search GEO for disease gene expression data for Rhombencephalosynapsis.

Pathways for Rhombencephalosynapsis

GO Terms for Rhombencephalosynapsis

Sources for Rhombencephalosynapsis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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