Multiple pterygium syndrome encompasses a number of condition which are characterised by:
It is associated with malignant hyperthermia. Typically the condition is autosomal dominant, but an autosomal recessive form exists in which there is an infantile death with hydrops, cystic hygroma, multiple flexion contractures and hypoplastic lungs. The underlying genetic defect rests with a mutation in the gene for interferon regulatory factor 6.
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