ADGRG6

Management

To date none of the affected individuals with the contracture phenotype have survived for more than an hour after birth.

For families and couples of affected individuals, it is important to counsel regarding the risk of recurrence. If both parents are carriers of a pathogenic or likely pathogenic variant, the risk of recurrence in any future pregnancy is 25%. To date, all cases have arisen from consanguineous parents and have harboured homozygous variants.