RYR1 and lethal multiple pterygium syndrome: In order to characterise potential genetic causes of FADS/MPS in such cases, we undertook molecular genetic investigations in cohorts of FADS, LMPS and EVMPS families that were enriched for autosomal recessively inherited forms of these disorders (i.e. enriched for parental consanguinity) and identified loss of function RYR1 mutations as a cause of early lethal FADS/LMPS.