VISS Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the IPO8 gene, encoding importin-8. It is a generalized connective tissue disorder resulting in skin laxity, vascular aneurysms, immune dysregulation, and skeletal anomalies.

**Synonyms:** - Vascular Aneurysm, Immune Dysregulation, Skeletal Anomalies, and Skin and Joint Laxity Syndrome