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Malignant hyperthermia - arthrogryposis - torticollis

ORPHA2215
Synonym(s) Froster-Iskenius-Waterson syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterised by arthrogryposis, congenital torticollis, dysmorphic facial features, progressive scoliosis and malignant hyperthermia. It has been described in two pairs of sibs from two unrelated families. This syndrome is likely to be transmitted as an autosomal recessive trait.


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Detailed information

Anesthesia guidelines
  • EN (2011,pdf)
  • DE (2011,pdf)
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