Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
MESHC567863
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
Synonyms
- Clove Syndrome
- Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities
- Cloves Syndrome
Source last updated 2026-05-24T15:29:55.190Z