/phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

Rare Disease

MONDO:0008237

Also Known As

Stoll-LC)vy-Francfort syndromeStoll-Lévy-Francfort syndromeStoll-levy-Francfort syndromefacioauriculoradial dysplasiaphocomelia ectrodactyly deafness sinus arrhythmiaphocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia

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.