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Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome

MedGen UID:
395493
Concept ID:
C1860471
Disease or Syndrome
Synonyms: Stoll Alembik Dott syndrome; Ventricular extrasystoles with syncope, perodactyly, and robin sequence
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0008645
OMIM®: 192445
Orphanet: ORPHA3201

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). [from ORDO]

Clinical features

From HPO
Aplasia/Hypoplasia of the distal phalanges of the toes
MedGen UID:
892342
Concept ID:
C4021326
Finding
Absence or underdevelopment of the distal phalanges of the toes.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Premature ventricular contraction
MedGen UID:
56236
Concept ID:
C0151636
Disease or Syndrome
Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Submucous cleft hard palate
MedGen UID:
98472
Concept ID:
C0432103
Congenital Abnormality
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Posteriorly placed tongue
MedGen UID:
870167
Concept ID:
C4024600
Anatomical Abnormality

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVentricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
Follow this link to review classifications for Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome in Orphanet.

Recent clinical studies

Etiology

Delannoy E, Sacher F, Maury P, Mabo P, Mansourati J, Magnin I, Camous JP, Tournant G, Rendu E, Kyndt F, Haïssaguerre M, Bézieau S, Guyomarch B, Le Marec H, Fressart V, Denjoy I, Probst V
Europace 2013 Dec;15(12):1805-11. Epub 2013 Jul 17 doi: 10.1093/europace/eut160. PMID: 23867365
Cordeiro JM, Perez GJ, Schmitt N, Pfeiffer R, Nesterenko VV, Burashnikov E, Veltmann C, Borggrefe M, Wolpert C, Schimpf R, Antzelevitch C
Can J Physiol Pharmacol 2010 Dec;88(12):1181-90. doi: 10.1139/Y10-094. PMID: 21164565Free PMC Article

Diagnosis

Delannoy E, Sacher F, Maury P, Mabo P, Mansourati J, Magnin I, Camous JP, Tournant G, Rendu E, Kyndt F, Haïssaguerre M, Bézieau S, Guyomarch B, Le Marec H, Fressart V, Denjoy I, Probst V
Europace 2013 Dec;15(12):1805-11. Epub 2013 Jul 17 doi: 10.1093/europace/eut160. PMID: 23867365

Prognosis

Delannoy E, Sacher F, Maury P, Mabo P, Mansourati J, Magnin I, Camous JP, Tournant G, Rendu E, Kyndt F, Haïssaguerre M, Bézieau S, Guyomarch B, Le Marec H, Fressart V, Denjoy I, Probst V
Europace 2013 Dec;15(12):1805-11. Epub 2013 Jul 17 doi: 10.1093/europace/eut160. PMID: 23867365
Cordeiro JM, Perez GJ, Schmitt N, Pfeiffer R, Nesterenko VV, Burashnikov E, Veltmann C, Borggrefe M, Wolpert C, Schimpf R, Antzelevitch C
Can J Physiol Pharmacol 2010 Dec;88(12):1181-90. doi: 10.1139/Y10-094. PMID: 21164565Free PMC Article

Clinical prediction guides

Cordeiro JM, Perez GJ, Schmitt N, Pfeiffer R, Nesterenko VV, Burashnikov E, Veltmann C, Borggrefe M, Wolpert C, Schimpf R, Antzelevitch C
Can J Physiol Pharmacol 2010 Dec;88(12):1181-90. doi: 10.1139/Y10-094. PMID: 21164565Free PMC Article
Stoll C, Kieny JR, Dott B, Alembik Y, Finck S
Am J Med Genet 1992 Feb 15;42(4):480-6. doi: 10.1002/ajmg.1320420413. PMID: 1376967

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