CLOVES syndrome is one 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
CLOVES is an acronym for:
(1) congenital lipomatous overgrowth (CLO)
(2) vascular malformations (V)
(3) epidermal nevi (E)
(4) scoliosis and spinal deformities (S)
Other key features:
(1) upper limb anomalies, especially involving the hands
(2) syndactyly of toes
(3) generalized brain overgrowth with ventriculomegaly and crowding of the posterior fossa
(4) overgrowth involving chest and abdomen
(5) variable intellectual disability
(6) variable endocrine abnormalities (hypoglycemia, hypothyroidism, other)
