Management

Management should be phenotype driven and multidisciplinary because GDF6-related diseases may involve skeletal, ocular, auricular, and kidney manifestations. Clinical assessment may include genetic testing, detailed musculoskeletal, ophthalmologic, and hearing evaluation. Recent findings of rare heterozygous GDF6variants in patients with congenital anomalies of the kidney and urinary tract (CAKUT) suggest that kidney ultrasonography should be considered in individuals with (likely) pathogenic GDF6variants, including those with primarily skeletal or ocular phenotypes. Conversely, GDF6analysis may be considered in patients with CAKUT plus vertebral, ocular, or auricular anomalies.