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Disease Profile

Ventricular extrasystoles with syncopal episodes perodactyly Robin sequence

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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US Estimated

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ventricular extrasystoles with syncope, perodactyly, and Robin sequence; Stoll-Kieny-Dott syndrome; Ventricular extrasystoles perodactyly Robin sequence

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the mandible
Abnormality of the lower jaw bone
0000277
Abnormality of the sense of smell
Abnormal sense of smell
Smell defect

[ more ]

0004408
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

0011675
Short distal phalanx of finger
Short outermost finger bone
0009882
Short foot
Short feet
Small feet

[ more ]

0001773
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short toe
Short toes
Stubby toes

[ more ]

0001831
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the distal phalanges of the toes
Absent/small outermost bones of toe
Absent/underdeveloped outermost bones of toe

[ more ]

0010185
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Hypodontia
Failure of development of between one and six teeth
0000668
Joint dislocation
Joint dislocations
Recurrent joint dislocations

[ more ]

0001373
Low anterior hairline
Low frontal hairline
Low-set frontal hairline

[ more ]

0000294
Submucous cleft hard palate
0000176
5%-29% of people have these symptoms
Camptodactyly of finger
Permanent flexion of the finger
0100490
Glossoptosis
Retraction of the tongue
0000162
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Pierre-Robin sequence
0000201
Posteriorly placed tongue
0009087
Syncope
Fainting spell
0001279
Tachycardia
Fast heart rate
Heart racing
Racing heart

[ more ]

0001649
Ventricular extrasystoles
Extra heart beat
0006682

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ventricular extrasystoles with syncopal episodes perodactyly Robin sequence. Click on the link to view a sample search on this topic.