Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi [Supplementary Concept]
A congenital syndrome characterized by prenatal overgrowth, hemihypertrophy and facial asymmetry, multiple vascular malformations, splenic cysts, skeletal abnormalities, and epidermal nevi. It is caused by somatic mosaic mutations in the PHOSPHOINOSITIDE 3-HYDROXYKINASE alpha peptide (PIK3CA) gene. OMIM: 612918
Date introduced: November 5, 2012
MeSH Unique ID: C567863
Heading Mapped to:
Entry Terms:
- Cloves Syndrome
- Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities
- Clove Syndrome