The birth defect is diagnosed by the presence of a combination of these symptoms (often on approximately of the body, though some cases may present more or less affected tissue): * One or more distinctive port-wine stains with sharp borders * Varicose veins * Hypertrophy of bony and soft tissues, that may lead to local gigantism or shrinking, most typically in the lower body/legs. * An improperly developed lymph system In some cases, port-wine stains (capillary port wine type) may be absent. Such cases are very rare and may be classified as "atypical<unk> ". KTS can either affect blood vessels, lymph vessels, or both. The condition most commonly presents with a mixture of the two. Those with venous involvement experience increased pain and complications, such as venous ulceration in the lower extremities. Those with large AVMs are at risk of formation of blood clots in the vascular lesion, which may migrate to the lungs (pulmonary embolism). If there is large-volume blood flow through the lesion, high-output heart failure may develop due to the inability of the heart to generate sufficient cardiac output. Much rarer are haemorrhages. They can be serious if the brain is affected. + Prevalence of symptoms in sufferers Symptom % Port wine stain 98% Longer extremity/hypertrophy 67% Circumferential hypertrophy 77% Varicosity 72% Pain 37% Bleeding 17% Superficial thrombophlebitis 15% Cellulitis 13% Rectal bleeding 12% Lymphatic malformation 11% Lymphedema 10% Hyperpigmentation 8% Ankle ulcers 6% Verrucae 6% Hyperhidrosis 5% DVT 4% Induration 4% Pulmonary embolism 4% Limb numbness 2%
Klippel–Trénaunay syndrome
Klippel–Feil syndrome
Pelger–Huët anomaly
Daentl Townsend Siegel syndrome
Wiedemann–Rautenstrauch syndrome
Prader–Willi syndrome
Langer–Giedion syndrome
Saethre–Chotzen syndrome