Disease Information for Klippel-Trenaunay syndrome

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Clinical Manifestations
Signs & Symptoms
Facial hemihypertrophy
Birthmark Leg
Birthmark
Excess Sweating Children
Port wine Stain Birthmark
Hematochezia/Blood per Rectum
Edema, lower extremity (leg) , unilateral
Foot Swelling
Prominent leg veins/unilateral
Thigh/Leg Swelling Unilateral Severe
Unilateral Leg Hypertrophy
Unilateral leg swelling
Unilateral Leg swelling in Children
Infant Seizures
Seizures/Children/recurrent
Bowing of extremities
Leg length difference
Lateral Asymmetry
Clinical Presentation & Variations
Presentation/Left Leg Edema Chronic Adult male
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Adult ('twenties')
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
Other Tests & Procedures
Extremity Plethsmography Abnormal
Angiography
Venogram Lower Extremity abnormal
Associated Diseases & Rule outs
Rule Outs
Popliteal cysts
Thrombophlebitis, deep vein
Associated Disease & Complications
Childhood malignancy
Cutaneous angioma/hemangioma
Glaucoma
Hemihypertrophy
Klippel-Trenaunay syndrome
Port wine nevus/Nevus flammeus/facial
Superficial skin varices
Varicose veins
Wilms tumor/nephroblastoma
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Cardiovascular (category)
CLASS/Extremities/Digits/Hand feet disorder (category)
CLASS/Lower extremity involvement/disorder (ex)
CLASS/Muscle/tendon/extremities (category)
Pathophysiology
Pathophysiology/Gene locus 5q13.3
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
angio osteohypertrophy syndrome, ANGIOOSTEOHYPERTROPHY SYNDROME, Cerebrofacial angiomatosis, Disease Klippel Trenaunay, Haemangiectatic hypertrophy, hemangiectasia hypertrophica, Hemangiectatic hypertrophy, hemangiectatic hypertrophy of Parkes Weber, KLIPPEL TRENAUNAY DIS, Klippel Trenaunay Disease, KLIPPEL TRENAUNAY SYNDROME, Klippel Trenaunay syndrome (KTS), Klippel Trenaunay Weber (KTW) syndrome, Klippel Trenaunay Weber Syndrome, Klippel Trenaunay Weber syndrome (disorder), Klippel Treneunay Parkes Weber syndrome, KTS, KTW SYNDROME, naevus vasculosus osteohypertrophicus, nevus osteohypertrophicus, nevus varicosus osteohypertrophicus, Ollier Klippel Trenaunay Weber syndrome, osteo angiohypertrophy, osteohypertrophic varicose syndrome, Parkes Weber syndrome, phlebarteriectasis, Syndrome Klippel Trenaunay Weber, Weber syndrome, Synonym/Angio-osteohypertrophy syndrome, Synonym/Congenital Dysplastic Angectasia, Synonym/Elephantiasis Congenita Angiomatosa, Synonym/Hemangiectatic Hypertrophy, Synonym/KTS, Synonym/KTW (Klippel-Trenaunay-Weber), Synonym/Osteohypertrophic nevus flammus, Synonym/Variant Parkes Weber syndrome (KTS)
Definition

A rare condition usually affecting one extremity, characterized by hypertrophy of the bone and related soft tissues, large cutaneous hemangiomas, persistent nevus flammeus, and skin varices; Klippel Trenaunay Syndrome; Angio-Osteohypertrophy Syndrome; Congenital Dysplastic Angiectasia; Elephantiasis Congenita Angiomatosa; Hemangiectatic Hypertrophy; KTS; KTW Syndrome; Klippel-Trenaunay-Weber Syndrome; Osteohypertrophic Nevus Flammeus; Subdivision Parkes-Weber Syndrome; Klippel-Trenaunay Syndrome, a rare disorder that is present at birth , is characterized by abnormal benign growths on the skin consisting of hemangiomas, excessive growth of the soft tissue and bone of a leg and/or arm (limb), and varicose veins; (In individuals with the disorder, such hypertrophy typically affects one side of the body ; In many cases, hemangiomas may consist of distinctive purplish-reddish birthmarks ("port wine stain" or nevus flammeus) on certain areas of the skin; The symptoms and findings associated with the disorder may vary in range and severity from case to case;-------[NORD 2005]-------------------

Klippel-Trénaunay-Weber syndrome; Klippel-Trénaunay syndrome; Klippel-Trenaunay-Parkes Weber syndrome; Ollier-Klippel syndrome; Ollier-Klippel-Trenaunay symptom complex;Ollier-Klippel-Trenaunay-Weber syndrome;Parkes Weber"s syndrome; Trenauny’s syndrome; Weber syndrome;

Weber"s syndrome; Weber-Klippel syndrome; Aneurysma arteriovenosum, angio-osteohypertrophy syndrome, hemengiectatic hypertrophy of Parkes Weber, angio-osteo-hypertrophic syndrome, osteohypertrophic angioectases, osteohypertrophic-varicose nevus syndrome, haemangiectasias hypertrophy, haemangiectasia hypertrophicans, naevus vasculosus osteohypertrophicus, nevus osteophypertrophicus, osteo-angiohypertrophy,osteohypertrophic nevus flammeus syndrome, nevus verucosus hypertrophicans, phlebarteriectasis-osteohypertrophic varicose veins syndrome

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NEJM (The New England Journal of Medicine)
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