ORPHA:3201
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Synonyms: Stoll-Kieny-Dott syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome | Stoll-Kieny-Dott syndrome |
| fr | Syndrome d'extrasystoles ventriculaires avec syncopes-pérodactylie-séquence de Robin | Syndrome de Stoll-Kieny-Dott |
| de | Ventrikuläre Extrasystolen mit synkopalen Episoden - Perodaktylie - Pierre-Robin-Sequenz | Extrasystolen, ventrikuläre - Perodaktylie - Pierre-Robin-Sequenz · Stoll-Kieny-Dott-Syndrom |
| es | Síndrome de extrasístoles ventriculares con episodios sincopales-perodactilia-secuencia de Robin | Síndrome de Stoll-Kieny-Dott |
| it | Extrasistoli ventricolari con episodi sincopali - perodattilia - sequenza di Robin | Sindrome di Stoll-Kieny-Dott |
| nl | Ventriculaire extrasystolen met syncopale episodes - perodactylie - Robin sequentie-syndroom | Syndroom van Stoll-Kieny-Dott |
| pt | Síndrome de extrasístoles ventriculares com episódios de síncope-perodactilia-sequência de Robin | Síndrome Stoll-Kieny-Dott |
| pl | Ekstrasystolia komorowa z epizodami omdlenia - perodaktylia - sekwencja Robina | Zespół Stolla, Kieny'ego i Dotta |
| cs | Syndrom zahrnující ventrikulární extrasystoly s epizodami synkop, perodaktylii a Robinovu sekvenci | Stollův-Kienyův-Dottové syndrom · Syndrom zahrnující ventrikulární extrasystoly s epizodami synkop, vrozené deformity prstů a Robinovu sekvenci · Stoll-Kieny-Dottové syndrom |
| uk | Синдром шлуночкової екстрасистолії з синкопальними епізодами-перодактилії-послідовності Пєра Робена | Синдром Штолля-Кіні-Дотта |
| zh | 室性早搏伴晕厥-指(趾)不全-罗宾序列综合征 | Stoll-Kieny-Dott综合征 |
| tr | Senkop atakları olan ventriküler ekstrasistoller-perodaktili-Robin dizi sendromu | Stoll-Kieny-Dott sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 192445 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008645 | E | validated | |
| UMLS | C4304408 | E | validated | |
| GARD | 5472 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
19 annotations · validated 2017-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000277 | Abnormality of the mandible | |
| HP:0004408 | Abnormality of the sense of smell | |
| HP:0011675 | Arrhythmia | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0001831 | Short toe | |
| HP:0001182 | Tapered finger | |
| Frequent (79-30%) | ||
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
| HP:0002705 | High, narrow palate | |
| HP:0000668 | Hypodontia | |
| HP:0001373 | Joint dislocation | |
| HP:0000294 | Low anterior hairline | |
| HP:0000176 | Submucous cleft hard palate | |
| Occasional (29-5%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0000162 | Glossoptosis | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0010044 | Short 4th metacarpal | |
Run the differential on the 8 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3201
- This record as JSON: /data/d/3201.json