Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

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.

Also known as: Stoll-LC)vy-Francfort syndrome, Stoll-Lévy-Francfort syndrome, Stoll-levy-Francfort syndrome, facioauriculoradial dysplasia, phocomelia ectrodactyly deafness sinus arrhythmia, phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia

1 clinical trial for this condition and its sub-types, 0 tagged with Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome itself.