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Disease Profile
Ventricular extrasystoles with syncopal episodes perodactyly Robin sequence
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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Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Orpha Number: 3201
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 |
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 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
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 | ||
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.