MCID: RHM015
MIFTS: 29

Rhombencephalosynapsis

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rhombencephalosynapsis

MalaCards integrated aliases for Rhombencephalosynapsis:

Name: Rhombencephalosynapsis 58 70

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 cebalid syndrome and gomez-lopez-hernandez syndrome. An important gene associated with Rhombencephalosynapsis is MN1 (MN1 Proto-Oncogene, Transcriptional Regulator). Affiliated tissues include brain, cerebellum and uterus, and related phenotypes are macrocephaly and hydrocephalus

Wikipedia : 73 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 68)
# Related Disease Score Top Affiliating Genes
1 cebalid syndrome 11.1
2 gomez-lopez-hernandez syndrome 11.1
3 mn1 c-terminal truncation syndrome 10.9
4 structural brain anomalies with impaired intellectual development and craniosynostosis 10.9
5 hydrocephalus 10.4
6 cerebellar malformation 10.3
7 ataxia and polyneuropathy, adult-onset 10.2
8 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.2
9 holoprosencephaly 10.1
10 alopecia 10.1
11 hypotonia 10.1
12 strabismus 10.0
13 microcephaly 10.0
14 mechanical strabismus 10.0
15 posterior fossa malformation 10.0
16 hypertelorism 9.9
17 vacterl association with hydrocephalus 9.9
18 polydactyly 9.9
19 holoprosencephaly 5 9.9
20 alacrima, achalasia, and mental retardation syndrome 9.9
21 myelomeningocele 9.9
22 cerebellar hypoplasia 9.9
23 hemangioma 9.9
24 absence of septum pellucidum 9.9
25 lobar holoprosencephaly 9.9
26 coloboma of macula 9.8
27 attention deficit-hyperactivity disorder 9.8
28 optic nerve hypoplasia, bilateral 9.8
29 neural tube defects 9.8
30 chromosome 2q35 duplication syndrome 9.8
31 torticollis 9.8
32 vater/vacterl association 9.8
33 corpus callosum, agenesis of 9.8
34 diastematomyelia 9.8
35 pontocerebellar hypoplasia, type 1b 9.8
36 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.8
37 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.8
38 aphasia 9.8
39 pontocerebellar hypoplasia 9.8
40 polycystic kidney disease 9.8
41 microlissencephaly 9.8
42 monocular esotropia 9.8
43 spastic diplegia 9.8
44 synostosis 9.8
45 anisometropia 9.8
46 spinal muscular atrophy 9.8
47 obstructive hydrocephalus 9.8
48 vacterl association 9.8
49 epilepsy 9.8
50 cerebral palsy 9.8

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 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
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 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
19 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
20 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
21 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
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, Uterus, Eye, Trigeminal Ganglion

Publications for Rhombencephalosynapsis

Articles related to Rhombencephalosynapsis:

(show top 50) (show all 153)
# Title Authors PMID Year
1
Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome. 61
33381921 2021
2
Verbal Adynamia and Conceptualization in Partial Rhombencephalosynapsis and Corpus Callosum Dysgenesis. 61
33652468 2021
3
A Case of Attention Deficit Hyperactivity Disorder in Rhombencephalosynapsis. 61
33590442 2021
4
Normal intellectual skills in patients with Rhombencephalosynapsis. 61
33046393 2020
5
Adult rhombencephalosynapsis: An unusual presentation of an infrequent entity. 61
33160728 2020
6
A child with rhombencephalosynapsis, agenesis of the trigeminal ganglion and optic coloboma (without alopecia): a variant of the cerebellotrigeminal dermal dysplasia? 61
32657848 2020
7
MN1 C-Terminal Truncation Syndrome 61
32790267 2020
8
Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review. 61
32302043 2020
9
Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child. 61
32382369 2020
10
The fetal falx cerebelli. 61
32185447 2020
11
Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding. 61
32103291 2020
12
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2020
13
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature. 61
32003537 2020
14
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
15
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. 61
31834374 2020
16
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies. 61
31794996 2019
17
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
18
Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis. 61
29484745 2019
19
Developmental outcomes in children with congenital cerebellar malformations. 61
30320441 2019
20
Cranial MR characteristics of Cerebral Palsy cases and correlation of findings with clinical results. 61
31990470 2019
21
Prenatal aqueduct stenosis: Association with rhombencephalosynapsis and neonatal outcome. 61
30229955 2018
22
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. 61
30580482 2018
23
Unsolved recognizable patterns of human malformation: Challenges and opportunities. 61
30580485 2018
24
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. 61
30391508 2018
25
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
26
Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature. 61
30181940 2018
27
Congenital Aqueductal Stenosis: Findings at Fetal MRI That Accurately Predict a Postnatal Diagnosis. 61
29519789 2018
28
Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis. 61
29760006 2018
29
Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case. 61
29664509 2018
30
Ataxia and developmental delay as the main manifestation of rhombencephalosynapsis. 61
30186561 2018
31
Cerebellar networks and neuropathology of cerebellar developmental disorders. 61
29903435 2018
32
Incidence of an Aberrant Right Subclavian Artery on Second-Trimester Sonography in an Unselected Population. 61
28258603 2017
33
Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcontinent. 61
28357184 2017
34
Rhombencephalosynapsis: A rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. 61
27841240 2016
35
A rare case of rhombencephalosynapsis and prenatal diagnosis. 61
27012487 2016
36
PERIOPERATIVE CARE OF AN INFANT WITH GOMEZ-LOPEZ-HERNANDEZ SYNDROME. 61
27487646 2016
37
Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities. 61
26166429 2016
38
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. 61
26599961 2016
39
Prenatal Magnetic Resonance Imaging of Atypical Partial Rhombencephalosynapsis with Involvement of the Anterior Vermis: Two Case Reports. 61
26479763 2015
40
Rhombencephalosynapsis: a rare congenital anomaly presenting with seizure and developmental delay. 61
26013386 2015
41
Fetal Diagnosis of Rhombencephalosynapsis. 61
26535873 2015
42
Dandy-Walker Malformation: is the 'tail sign' the key sign? 61
26448595 2015
43
Gómez-López-Hernández Syndrome: A Rare Cause of Bilateral Nonscarring Alopecia. 61
26391554 2015
44
Rhombencephalosynapsis. 61
25816977 2015
45
Gómez-López-Hernández syndrome in a Japanese patient: a case report. 61
24856766 2015
46
Outcome of 12 antenatally diagnosed fetal arachnoid cysts: case series and review of the literature. 61
25599983 2015
47
Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, Posterior fossa disorders. 61
25457569 2015
48
Trigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome. 61
25339626 2015
49
[Rhombencephalosynapsis, a rare congenital abnormality easy to diagnose]. 61
24560496 2014
50
Stenogyria - not only in Chiari II malformation. 61
25282544 2014

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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