Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi

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

Also Known As:

Clove Syndrome; Cloves Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities

Neoplasms: 1324753
- Neoplasms by Histologic Type: 2
  - Nevi and Melanomas: 63
    - Nevus: 2308
      - Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi: 11
  - Connective and Soft Tissue Neoplasms: 1
    - Adipose Tissue Neoplasms: 1
      - Lipoma: 1340
        Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi: 11
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi: 11
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Vascular Malformations: 1439
      - Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi: 11
  - Musculoskeletal Abnormalities: 43
    - Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi: 11
Cardiovascular Diseases: 91362
- Cardiovascular Abnormalities: 452
  - Vascular Malformations: 1439
    - Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi: 11

Flavio Facchini Selected Research

Flavio Facchini Research Topics

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