PIK3CA-Related Overgrowth Spectrum (PROS): Included Phenotypes 1, 2
  • Megalencephaly-capillary malformation (MCAP) syndrome
  • Dysplastic megalencephaly (DMEG), hemimegalencephaly (HMEG) and focal cortical dysplasia (FCD)
  • Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal (CLOVES) syndrome
  • Klippel-Trenaunay syndrome
  • CLAPO syndrome
  • Isolated tissue dysplasia-overgrowth phenotypes: lymphatic malformations, vascular malformations, venous malformations, lipomatosis
  • Fibroadipose hyperplasia or overgrowth (FAO)
  • Hemihyperplasia multiple lipomatosis (HHML)
  • Macrodactyly
  • Fibroadipose infiltrating lipomatosis / facial infiltrative lipomatosis

For synonyms and outdated names see Nomenclature.


For other genetic causes of these phenotypes see Differential Diagnosis.


From: PIK3CA-Related Overgrowth Spectrum

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