[MIM 613 089]

Acronym for Capillary malformation of the Lower lip, lymphatic malformation of the head and neck, Asymmetry of face and limbs, and Partial/generalized Overgrowth.

Complex vascular malformation due to somatic mutations (usually mosaic) of the PIK3CA gene (3q26.32), characterized by:

-        a symmetrical, well-defined capillary malformation of the lower lip, present from birth (100 %)

-        a lymphatic malformation of the face (sometimes tongue) and neck, or of a limb (92 %), sometimes associated with a venous malformation

-        facial and limb asymmetry, as well as localized or generalized overgrowth including one or more parts of the body.

Unlike other PROS-type malformations (see this term), CLAPO malformations do not tend to grow, and the capillary malformation generally fades with time.

If symptomatic: treatment with sirolimus or alpelisib.

Anesthetic implications:

risk of lymphatic malformation of the face and neck.

References : 

-        Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F,  Agra N, Vallespín I et al.
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Genetics in Medicine 2018 ; 20 : 882-9

-        Tran AX, Gelles L.
CLAPO Syndrome.
JAMA Dermatology 2024 ; doi:10.1001/jamadermatol.2024.2526

Updated: September 2024