Phocomelia ectrodactyly deafness sinus arrhythmia

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Alternate names[edit]

Stoll-Levy-Francfort syndrome; Stoll-Lévy-Francfort syndrome; Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

Definition[edit]

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]

Phocomelia ectrodactyly deafness sinus arrhythmia is a rare disease.

Rare and genetic diseases

Rare diseases - Phocomelia ectrodactyly deafness sinus arrhythmia

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