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Malignant hyperthermia - arthrogryposis - torticollis

Orpha number ORPHA2215
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code -
MIM number
Synonym(s) Froster-Iskenius-Waterson syndrome

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. *Author: Orphanet (December 2006)*.

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