What is Klippel Trenaunay Weber syndrome?
Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.
Is Klippel Trenaunay Weber syndrome a disability?
Is Klippel-Trenaunay syndrome a disability? It can be. If KTS complications, such as deep vein thrombosis or pulmonary embolism, prevent you from working, you may qualify for disability benefits.
Is Klippel Trenaunay Weber syndrome genetic?
KTS is a genetic disorder. It involves genetic changes (mutations), most commonly in the PIK3CA gene. This gene is responsible for the growth of cells and the development of tissues in the body. A change in this gene results in overgrowth of tissues.
What kind of doctor treats Klippel-Trenaunay syndrome?
Diagnosis of Klippel-Trenaunay syndrome begins with a physical exam. Referral to a vascular malformations specialist is helpful for evaluation and treatment recommendations.
Is Klippel-Trenaunay life threatening?
Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome of vascular malformations and soft tissue and bone hypertrophy. Vascular malformations can affect multiple organ systems. Involvement of the gastrointestinal (GI) tract is uncommon in KTS, but it can be a source of life-threatening bleeding.
How is Klippel-Trenaunay diagnosed?
KTS is diagnosed based on physical signs and symptoms. Computed axial tomography (CAT) and magnetic resonance imaging (MRI) scans, and color doppler studies may be useful in determining the extent of the condition and how best to manage it.
Are KTS painful?
Klippel-Trenaunay syndrome (KTS) is a rare disorder that consists of a triad of capillary vascular malformation, venous malformations and/or varicose veins, and soft tissue and/or bony hypertrophy. Pain is a real and debilitating problem in these patients.
Is Klippel Feil syndrome life expectancy?
In less than 30% of cases, individuals with KFS will present with heart defects. If these heart defects are present, they often lead to a shortened life expectancy, the average being 35–45 years of age among males and 40–50 among females.
How is Klippel Trenaunay diagnosed?
Is Klippel Trenaunay life threatening?
Does Klippel-Feil syndrome get worse with age?
KFS symptoms may or may not be apparent at birth or during childhood. However, KFS symptoms typically worsen with age and may become more apparent later in life.
Is Klippel-Feil syndrome considered a disability?
Klippel-Feil Syndrome, a rare birth disability.
Is Klippel-Feil syndrome painful?
Klippel-Feil syndrome (KFS) symptoms can range from minor discomfort to severe pain and limited range of motion in the neck. Other conditions may occur with KFS, and the symptoms associated with these other conditions can also run the spectrum in terms of severity and whether or not they impact quality of life.
How do I fix Klippel-Feil syndrome?
Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful.
Is Klippel-Feil syndrome life expectancy?
Is Klippel-Feil syndrome a birth defect?
Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of two or more cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.