CLAPO, HHML and KTS are some of the PIK3CA-related overgrowth syndromes (PROS).
Chromosome: 3q26.32
Gene: PIK3CA (phosphoinositide-3 kinase)
Genetic alteration: somatic mutation with postzygotic mosaic gain-of-function
Inheritance: not known to be inherited
CLAPO = capillary malformation of the lower lip, lymphatic malformation, asymmetry and partial or generalized overgrowth:
(1) partial or generalized overgrowth of soft tissues and bone
(2) lower lip capillary malformation without progression
(3) lymphatic malformation of head, neck, and/or chest
HHML = hemihyperplasia multiple lipomatosis:
(1) asymmetric overgrowth of a body part of body segment, which may be static or slowly progressive
(2) multiple lipomas
KTS = Klippel-Trenaunay Syndrome:
(1) bone and/or soft tissue overgrowth in a unilateral limb
(2) digital enlargement
(3) low-flow venous or lymphatic malformation
(4) capillary malformation (port-wine nevus)
