MCID: VNT031
MIFTS: 18

Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

MalaCards integrated aliases for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence:

Name: Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 56 52
Stoll-Kieny-Dott Syndrome 52 58
Ventricular Extrasystoles with Syncopal Episodes-Perodactyly-Robin Sequence Syndrome 58
Ventricular Extrasystoles with Syncopal Episodes - Perodactyly - Robin Sequence 52
Ventricular Extrasystoles Perodactyly Robin Sequence 52

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ventricular extrasystoles with syncope, perodactyly, and robin sequence:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3201 Definition This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence (see this term). Epidemiology It has initially been reported in six patients from three generations of one family. Four affected members of another family manifesting a similar constellation of clinical features have recently been reported. Clinical description An additional feature may be an antimongoloid slant of the palpebral fissures. Etiology Etiology remains unknown. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence, is also known as stoll-kieny-dott syndrome. Affiliated tissues include tongue, and related phenotypes are short stature and arrhythmia

More information from OMIM: 192445

Related Diseases for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

Symptoms & Phenotypes for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

Human phenotypes related to Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
3 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
4 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
5 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
6 abnormality of the sense of smell 58 31 hallmark (90%) Very frequent (99-80%) HP:0004408
7 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
8 abnormality of the mandible 58 31 hallmark (90%) Very frequent (99-80%) HP:0000277
9 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
10 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
11 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
12 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
13 submucous cleft hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0000176
14 aplasia/hypoplasia of the distal phalanges of the toes 58 31 frequent (33%) Frequent (79-30%) HP:0010185
15 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
16 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
17 glossoptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000162
18 short 4th metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010044
19 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
20 downslanted palpebral fissures 31 HP:0000494
21 syncope 31 HP:0001279
22 tachycardia 31 HP:0001649
23 ventricular extrasystoles 31 HP:0006682
24 pierre-robin sequence 31 HP:0000201
25 posteriorly placed tongue 31 HP:0009087

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
ventricular extrasystoles
cardiac arrhythmia
bigeminy
multifocal tachycardia

Neuro:
syncopal episodes

Limbs:
perodactyly
hypoplasia/agenesis of distal phalanges of toes

Mouth:
posteriorly placed tongue
submucous cleft palate
robin sequence

Eyes:
antimongoloid slant of palpebral fissures

Clinical features from OMIM:

192445

Drugs & Therapeutics for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

Search Clinical Trials , NIH Clinical Center for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence

Genetic Tests for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

Anatomical Context for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

MalaCards organs/tissues related to Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence:

40
Tongue

Publications for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

Articles related to Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence:

# Title Authors PMID Year
1
Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome? 56
18388777 2008
2
Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome? 56
1376967 1992

Variations for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

Expression for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

Search GEO for disease gene expression data for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence.

Pathways for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

GO Terms for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

Sources for Ventricular Extrasystoles with Syncope, Perodactyly, and Robin...

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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