Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Stoll-Kieny-Dott syndrome |
| Number of Symptoms | 33 |
| OrphanetNr: | 3201 |
| OMIM Id: |
192445
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000174) | Abnormality of the palate | Frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0011819) | Submucous cleft soft palate | 12 / 7739 | ||||
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(HPO:0000162) | Glossoptosis | Occasional [Orphanet] | 26 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0009087) | Posteriorly placed tongue | 1 / 7739 | ||||
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(HPO:0000201) | Pierre-Robin sequence | 20 / 7739 | ||||
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(HPO:0000176) | Submucous cleft hard palate | 19 / 7739 | ||||
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(HPO:0000185) | Cleft soft palate | 18 / 7739 | ||||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000294) | Low anterior hairline | Frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
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(HPO:0000366) | Abnormality of the nose | Very frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0001367) | Abnormal joint morphology | Frequent [Orphanet] | 53 / 7739 | |||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Very frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0001182) | Tapered finger | Very frequent [Orphanet] | 93 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Occasional [Orphanet] | 212 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0011305) | Partial absence of toe | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0010185) | Aplasia/Hypoplasia of the distal phalanges of the toes | 4 / 7739 | ||||
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(HPO:0001163) | Abnormality of the metacarpal bones | Occasional [Orphanet] | 149 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0006682) | Ventricular extrasystoles | 25 / 7739 | ||||
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(HPO:0001649) | Tachycardia | 53 / 7739 | ||||
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(HPO:0011675) | Arrhythmia | Very frequent [Orphanet] | 226 / 7739 | |||
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(HPO:0001279) | Syncope | 94 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Occasional [Orphanet] | 949 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Bigeminy | 2 / 7739 | ||||
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(OMIM) | Multifocal tachycardia | 1 / 7739 | ||||
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(OMIM) | Perodactyly | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Stoll et al. (1992) described a family in which 6 individuals in 3 generations had cardiac arrhythmia (ventricular extrasystoles occurring as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the ... |