We now present clinical, biochemical, and genetic characteristics of three unrelated patients carrying biallelic pathogenic POC1A variants outside exon 10 who show clinical features of SOFT syndrome plus severe dyslipidaemic IR, providing further evidence that severe IR with or without DM2 is a frequent component of SOFT syndrome. Here, POC1A is linked to short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome.