Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Malformation syndrome Synonyms Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome Zespół Stolla, Lévy'ego i Francforta Stoll-Lévy-Francfort syndrome ORPHA code 2878 OMIM code 171480 ICD10 code Q87.2 ICD11 code LD2H.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl