MCID: RHM015
MIFTS: 29

Rhombencephalosynapsis

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rhombencephalosynapsis

MalaCards integrated aliases for Rhombencephalosynapsis:

Name: Rhombencephalosynapsis 58 71

Characteristics:

Orphanet epidemiological data:

58
rhombencephalosynapsis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Rhombencephalosynapsis

MalaCards based summary : Rhombencephalosynapsis is related to microcephaly and cebalid syndrome. An important gene associated with Rhombencephalosynapsis is ADGRL2 (Adhesion G Protein-Coupled Receptor L2). Affiliated tissues include brain, cerebellum and eye, and related phenotypes are hypertelorism and macrocephaly

Wikipedia : 74 Rhombencephalosynapsis is a rare genetic brain abnormality of malformation of the cerebellum. The... more...

Related Diseases for Rhombencephalosynapsis

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 microcephaly 29.1 ZIC2 ADGRL2
2 cebalid syndrome 11.7
3 gomez-lopez-hernandez syndrome 11.7
4 structural brain anomalies with impaired intellectual development and craniosynostosis 11.2
5 hydrocephalus 10.5
6 cerebellar malformation 10.5
7 ataxia and polyneuropathy, adult-onset 10.4
8 hydrocephalus, congenital, 1 10.4
9 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.3
10 holoprosencephaly 10.3
11 dandy-walker syndrome 10.3
12 alopecia 10.3
13 hypotonia 10.3
14 alacrima, achalasia, and mental retardation syndrome 10.2
15 posterior fossa malformation 10.2
16 hypertelorism 10.1
17 strabismus 10.1
18 vacterl association with hydrocephalus 10.1
19 polydactyly 10.1
20 holoprosencephaly 5 10.1
21 myelomeningocele 10.1
22 cerebellar hypoplasia 10.1
23 hemangioma 10.1
24 mechanical strabismus 10.1
25 absence of septum pellucidum 10.1
26 lobar holoprosencephaly 10.1
27 optic nerve hypoplasia, bilateral 10.0
28 neural tube defects 10.0
29 chromosome 2q35 duplication syndrome 10.0
30 torticollis 10.0
31 corpus callosum, agenesis of 10.0
32 diastematomyelia 10.0
33 pontocerebellar hypoplasia, type 1b 10.0
34 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
35 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
36 pontocerebellar hypoplasia 10.0
37 polycystic kidney disease 10.0
38 monocular esotropia 10.0
39 obsessive-compulsive personality disorder 10.0
40 spastic diplegia 10.0
41 synostosis 10.0
42 anisometropia 10.0
43 spinal muscular atrophy 10.0
44 obstructive hydrocephalus 10.0
45 vacterl association 10.0
46 personality disorder 10.0
47 epilepsy 10.0
48 cerebral palsy 10.0
49 craniosynostosis 10.0
50 gm1 gangliosidosis 10.0

Graphical network of the top 20 diseases related to Rhombencephalosynapsis:



Diseases related to Rhombencephalosynapsis

Symptoms & Phenotypes for Rhombencephalosynapsis

Human phenotypes related to Rhombencephalosynapsis:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
4 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
7 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
8 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
9 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
10 abnormality of the dentate nucleus 58 31 hallmark (90%) Very frequent (99-80%) HP:0100321
11 agenesis of cerebellar vermis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002335
12 fusion of the cerebellar hemispheres 58 31 hallmark (90%) Very frequent (99-80%) HP:0006899
13 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
14 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
15 septo-optic dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100842
16 fusion of the left and right thalami 58 31 frequent (33%) Frequent (79-30%) HP:0010664
17 abnormality of the cardiovascular system 58 31 occasional (7.5%) Occasional (29-5%) HP:0001626
18 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
19 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
20 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
21 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
22 abnormality of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000130
23 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
24 esophageal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002032
25 complete duplication of thumb phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0009943
26 short phalanx of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009803
27 abnormal renal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012210
28 polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0010442
29 abnormality of the face 58 Occasional (29-5%)
30 abnormality of the eye 58 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:

40
Brain, Cerebellum, Eye, Uterus, Bone, Kidney, Testes

Publications for Rhombencephalosynapsis

Articles related to Rhombencephalosynapsis:

(show top 50) (show all 146)
# Title Authors PMID Year
1
Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child. 61
32382369 2020
2
Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review. 61
32302043 2020
3
The fetal falx cerebelli. 61
32185447 2020
4
Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding. 61
32103291 2020
5
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2020
6
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature. 61
32003537 2020
7
Early diagnosis of rhombencephalosynapsis: the limits of intracranial translucency at first trimester screening and a plea for an assessment of the aqueduct of Sylvius. 61
32349173 2020
8
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. 61
31834374 2020
9
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies. 61
31794996 2019
10
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
11
Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis. 61
29484745 2019
12
Developmental outcomes in children with congenital cerebellar malformations. 61
30320441 2019
13
Cranial MR characteristics of Cerebral Palsy cases and correlation of findings with clinical results. 61
31990470 2019
14
Prenatal aqueduct stenosis: Association with rhombencephalosynapsis and neonatal outcome. 61
30229955 2018
15
Unsolved recognizable patterns of human malformation: Challenges and opportunities. 61
30580485 2018
16
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. 61
30391508 2018
17
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. 61
30580482 2018
18
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis. 61
30340542 2018
19
Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature. 61
30181940 2018
20
Congenital Aqueductal Stenosis: Findings at Fetal MRI That Accurately Predict a Postnatal Diagnosis. 61
29519789 2018
21
Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis. 61
29760006 2018
22
Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case. 61
29664509 2018
23
Ataxia and developmental delay as the main manifestation of rhombencephalosynapsis. 61
30186561 2018
24
Cerebellar networks and neuropathology of cerebellar developmental disorders. 61
29903435 2018
25
Incidence of an Aberrant Right Subclavian Artery on Second-Trimester Sonography in an Unselected Population. 61
28258603 2017
26
Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcontinent. 61
28357184 2017
27
Rhombencephalosynapsis: A rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. 61
27841240 2016
28
A rare case of rhombencephalosynapsis and prenatal diagnosis. 61
27012487 2016
29
PERIOPERATIVE CARE OF AN INFANT WITH GOMEZ-LOPEZ-HERNANDEZ SYNDROME. 61
27487646 2016
30
Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities. 61
26166429 2016
31
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. 61
26599961 2016
32
Dandy-Walker Malformation: is the 'tail sign' the key sign? 61
26448595 2015
33
Rhombencephalosynapsis: a rare congenital anomaly presenting with seizure and developmental delay. 61
26013386 2015
34
Fetal Diagnosis of Rhombencephalosynapsis. 61
26535873 2015
35
Prenatal Magnetic Resonance Imaging of Atypical Partial Rhombencephalosynapsis with Involvement of the Anterior Vermis: Two Case Reports. 61
26479763 2015
36
Gómez-López-Hernández Syndrome: A Rare Cause of Bilateral Nonscarring Alopecia. 61
26391554 2015
37
Rhombencephalosynapsis. 61
25816977 2015
38
Gómez-López-Hernández syndrome in a Japanese patient: a case report. 61
24856766 2015
39
Outcome of 12 antenatally diagnosed fetal arachnoid cysts: case series and review of the literature. 61
25599983 2015
40
Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, Posterior fossa disorders. 61
25457569 2015
41
Trigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome. 61
25339626 2015
42
[Rhombencephalosynapsis, a rare congenital abnormality easy to diagnose]. 61
24560496 2014
43
Stenogyria - not only in Chiari II malformation. 61
25282544 2014
44
Assessment of fetal midbrain and hindbrain in mid-sagittal cranial plane by three-dimensional multiplanar sonography. Part 2: application of nomograms to fetuses with posterior fossa malformations. 61
24478245 2014
45
Rhombencephalosynapsis as a cause of aqueductal stenosis: an under-recognized association in hydrocephalic children. 61
24633306 2014
46
Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance? 61
24690526 2014
47
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. 61
24839100 2014
48
Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone. 61
24311025 2014
49
Cerebellar cognitive affective syndrome presented as severe borderline personality disorder. 61
24715924 2014
50
Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. 61
24105968 2013

Variations for Rhombencephalosynapsis

Expression for Rhombencephalosynapsis

Search GEO for disease gene expression data for Rhombencephalosynapsis.

Pathways for Rhombencephalosynapsis

GO Terms for Rhombencephalosynapsis

Biological processes related to Rhombencephalosynapsis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 8.62 ZIC2 ADGRL2

Sources for Rhombencephalosynapsis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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