<h4>Background</h4>KBG syndrome, a rare autosomal disorder characterised by distinctive craniofacial and skeletal features and developmental delay, is caused by haploinsufficiency of the ANKRD11 gene.<h4>Results</h4>Here we describe two siblings with multiple symptoms characteristic of KBG and their mother with a milder phenotype. The gene discussed is ANKRD11; the disease is KBG syndrome.