Here we describe a patient, homozygous for a novel <i>AEBP1</i> pathogenic variant (NM_001129.5 c.2123_2124delTG (p.Val708AlafsTer5)), whose phenotype is reminiscent of classical EDS but also includes previously unreported multiple congenital malformations. The gene discussed is AEBP1; the disease is Ehlers-Danlos syndrome.