Management

Diagnosis/testing
Genic variants in ASCC1 can be identified using molecular genetic testing, either directly by Sanger sequencing and/or MLPA of the gene, either by a multigene panel that includes ASCC1 and other genes of interest or by exome/genome sequencing and/or microarray analysis (CMA) for whole gene/exons deletion identification.

Prenatal diagnosis could be offered for couples carrying ASCC1 pathogenic variants. CMA and/or targeted or genome-wide next generation sequencing have been proven to be successful approach for pregnancies complicated from arthrogryposis.

Clinical Management and surveillance
Not available due to the low number of reported cases and early mortality.