Phocomelia ectrodactyly deafness sinus arrhythmia
Alternate names[edit | edit source]
Stoll-Levy-Francfort syndrome; Stoll-Lévy-Francfort syndrome; Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Definition[edit | edit source]
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised 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.
NIH genetic and rare disease info[edit source]
Phocomelia ectrodactyly deafness sinus arrhythmia is a rare disease.
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