Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

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Synonyms: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome | Stoll-Lévy-Francfort syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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