Hemihypertrophy of the soft and bone tissue, hemangiomata, and varicose veins form the basic triad of this syndrome. Unilateral lesions of the legs with cutaneous and subcutaneous hemangiomas, varicosities, phlebectasis and occasional arteriovenous fistulae were emphasized in earlier reports, but later findings indicate involvement of many other parts of the body. Vascular anomalies may be present at birth or may appear in infancy. Occasional associated abnormalities may include lymphangiomatous anomalies, limb deformities, cutis marmorata, micro- or macrocephaly, eye diseases, and craniofacial deformities. Most patients have normal mentality, except when vascular lesions invade the cerebral tissue. In the absence of arteriovenous fistulae, the syndrome is often referred to as Weber syndrome or Parkes Weber syndrome. Klippel-Trenaunay-Weber syndrome is associated in some cases with Sturge-Weber angiomatosis.

Head and Neck: Macrocephaly or microcephaly and maxillary prognathism.

Eyes: Enophthalmos, conjunctival telangiectases, heterochromia iridis, iris coloboma, oculomotor palsy, scleral pigmentation, retinal varices, choroidal angiomas, Marcus Gunn pupil (unilateral blepharoptosis, exaggerated opening of the eye during mastication or movements of the mandible), strabismus, orbital varices, and optic disk anomalies.

Mouth and oral structures: Angiomas of the lips, buccal mucosa, tongue, palate, gingiva, and oropharynx; premature eruption of teeth, displacement of teeth, and malocclusion.

Hand and foot: Macrodactyly, polydactyly, and syndactyly.

Extremities: Unilateral hypertrophy and varicose veins.

Skin: Hemangiomangiomatosis, nevus flammeus, telangiectasia, cutis marmorata, pigmented streaks, aseptic cellulitis, and varicose ulcers.

Nervous system: Capillary hemangiomas of trigeminal nerve and cerebral vascular anomalies.

Cardiovascular system: Varicose veins, arteriovenous fistulae, and capillary hemangiomata.

Gastrointestinal system: Intestinal hemorrhage in gut hemangiomas and protein-losing enteropathy.

Urogenital system: Renal artery aneurysm, renal pelvic angiomatosis, and uterine hemangioma with hemorrhagia.

Hematopoietic: Thrombocytopenia.

Growth and development: Mental retardation.

Heredity: Transmitted as an autosomal dominant trait.

Additional features: Hemihypertrophy.

References

http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome387.html