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Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

Disease 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.

ORPHA:2878

Classification level: Disorder
  • Synonym(s):
    • Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome
    • Stoll-Lévy-Francfort syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.2
  • ICD-11: LD2H.Y
  • OMIM: 171480
  • UMLS: C1868390
  • MeSH: -
  • GARD: 4323
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.