Our findings expand the knowledge of the clinical phenotype of this recently defined autosomal-recessive EDS subtype, provide the first evidence that missense variants contribute to the allelic repertoire of AEBP1, and suggest that in the diagnostic process of a cEDS patient this gene should be investigated when a recessive inheritance is compatible and no causal variant is identified in the other cEDS genes. The gene discussed is AEBP1; the disease is Ehlers-Danlos syndrome.