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Klippel Feil syndrome can occur in association with scoliosis, spina bifida, cleft palate and defects involving the urinary tract, kidneys, heart, brain, and skeleton

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Q: With what other associated abnormalities can Klippel Feil syndrome occur?
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What is the cause of Klippel Feil syndrome?

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Klippel-Trenaunay syndrome?

DefinitionKlippel-Trenaunay syndrome is a rare condition that is present at birth. The syndrome usually involves port wine stains, excess growth of bones and soft tissue, and varicose veins.Alternative NamesKlippel-Trenaunay-Weber syndrome; KTS; Angio-osteohypertrophy; Nevus varicosus osteohypertrophicus syndrome; Hemangiectasia hypertrophicans; Nevus verucosus hypertrophicansCauses, incidence, and risk factorsMost cases of Klippel-Trenaunay syndrome occur for no apparent reason. However, a few cases are thought to be passed down through families (inherited), possibly as an autosomal dominanttrait.SymptomsMany port wine stains or other blood vessel problems, including dark spots on the skin.Varicose veins (may be seen in early infancy, but are more likely to be seen later in childhood or adolescence)Other possible symptoms:Bleeding from the rectumBlood in the urineSigns and testsPersons with this condition may have excessive growth of bones and soft tissue. This occurs most commonly in the legs, but it also may affect the arms, face, head, or internal organs.Support GroupsIt may be helpful to join a support group in which members share common problems and concerns.The following organizations provide further information on Klippel-Trenaunay syndrome:The Klippel-Trenaunay Syndrome Support Group --www.k-t.orgVascular Birthmarks Foundation -- www.birthmark.orgExpectations (prognosis)Most individuals with Klippel-Trenaunay syndrome do well, despite their cosmetic appearance. However, there can be related psychological problems.ReferencesGarzon M, Huang J, Enjolras O, Frieden I. Vascular malformations. Part II: associated syndromes. J Am Acad Derm. April 2007; 56(4): 541-64.


Are chromosomal abnormalities confined to certain parts of the body?

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Is a set the sings and symptoms that occur together?

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