Syndrome (MIM, ORPHA) | Main abnormalities associated with LMs | Gene |
---|---|---|
Proteus syndrome (MIM 176,920 Orpha 744) | Capillary and venous malformation, asymmetric musculoskeletal hypertrophy, epidermal hamartomas | AKT1 (S) |
CLOVES (MIM 612,918 Orpha 140,944) | Venous and capillary malformation, asymmetric lipomatous and musculoskeletal hypertrophy | PIK3CA (S) |
Klippel-Trenaunay syndrome (MIM 149,000 Orpha 2346) | Capillary malformation of limb, elongated affected limb, venous malformations (varicose veins) with thrombotic risk | PIK3CA (S) |
Bannayan-Riley-Ruvalcaba (MIM 158,350, ORPHA 109) | Capillary and venous malformation, arteriovenous malformation, macrocephaly, intestinal hamartomatous polyposis | PTEN (G) |
CLAPO (MIM 613,089, ORPHA 168,984) | Capillary malformation of the lower lip, asymmetry of face and limbs, partial or generalize overgrowth of one or more body segments | PIK3CA (S) |
Gorham–Stout syndrome (MIM 123,880, ORPHA 73) | Massive osteolysis associated with proliferation and dilation of lymphatic vessels | |
Generalized lymphatic abnormality | Diffuse involvement (pulmonary, hepatic, splenic, etc.) |