Living with Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
A rare inherited condition with heart rhythm problems and fainting, short or missing toe bones, and a small lower jaw.
Understanding Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
Pierre Robin sequence involves a small lower jaw and palate differences. The heart rhythm problems are extra heartbeats from the lower heart chambers. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Irregular heart rhythm (arrhythmia)
- Fainting episodes
- Short or missing toe bones
- Jaw bone differences
- High, narrow palate
- Short stature
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (variants) cause this condition, and it follows an autosomal dominant pattern. A changed copy from one parent can be enough.
Also known as: stoll-kieny-dott syndrome; ventricular extrasystoles with syncope, perodactyly, and robin sequence
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome.
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