In the present study, we report three unrelated children with an hitherto undiagnosed, but recognizable malformation syndrome and a heterozygous truncating variant in FBRSL1. All children presented with respiratory insufficiency, feeding difficulties, postnatal growth restriction and microcephaly, global developmental delay, no active speech, contractures, facial dysmorphism and other malformations like heart defects, cleft palate and distinctive skin creases in the first year of life. The gene discussed is FBRSL1; the disease is developmental defect during embryogenesis.