phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Findings
No curated finding names phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.
Definition from the Mondo Disease Ontology (MONDO:0008237), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
2 names
Resolves to: phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
- Also called
- Stoll-LC)vy-Francfort syndromeStoll-Lévy-Francfort syndrome