Presentation
They had ventricular extrasystoles that presented itself with syncopal episodes associated with multifocal tachycardia, aplastic/hypoplastic distal phalanges of the toes (a phenomenon Stoll et al. described as perodactyly), Pierre Robin Sequence, a condition [en.wikipedia.org]
Cardiovascular
- Tachycardia
Tachycardia MedGen UID: 21453 •Concept ID: C0039231 • Finding A rapid heartrate that exceeds the range of the normal resting heartrate for age. [ncbi.nlm.nih.gov]
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 [rarediseases.info.nih.gov]
They had ventricular extrasystoles that presented itself with syncopal episodes associated with multifocal tachycardia, aplastic/hypoplastic distal phalanges of the toes (a phenomenon Stoll et al. described as perodactyly), Pierre Robin Sequence, a condition [en.wikipedia.org]
Musculoskeletal
- Decrease in Height
[…] 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 [rarediseases.info.nih.gov]
Face, Head & Neck
- Pierre Robin Syndrome
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 [ncbi.nlm.nih.gov]
Treatment
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Etiology
Etiology Etiology remains unknown. Last updated: 9/1/2009 Symptoms Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]
Epidemiology
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. [rarediseases.info.nih.gov]
Prevention
Other names Ventricular extrasystoles with syncope, perodactyly, and Robin sequence, Stoll-Kieny-Dott syndrome, Ventricular extrasystoles perodactyly Robin sequence[1] Specialty Medical genetics Usual onset Birth and Childhood Causes Genetic mutation Prevention [en.wikipedia.org]