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Phocomelia - ectrodactyly - deafness - sinus arrhythmia

ORPHA2878
Synonym(s) Stoll-Lévy-Francfort syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.2
OMIM
UMLS
  • C1868390
MeSH -
MedDRA -

Summary

This 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.


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