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Doctor insights on: Klippel Trenaunay

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What is klippel trenaunay syndrome?

What is klippel trenaunay syndrome?

Let me explain: Klippel–trénaunay syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus (port-wine stain), venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. ...Read more

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Could anybody get klippel trenaunay syndrome?

Could anybody get klippel trenaunay syndrome?

Yes: This syndrome presents with a port-wine skin blemish, overgrowth of a bone, often in one leg, and vein abnormalities, usually in leg veins and often varicose veins. It can occur in anybody, women more often, and there has yet to be a genetic pattern identified. ...Read more

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What is Klippel-Trenaunay-Weber syndrome?

What is Klippel-Trenaunay-Weber syndrome?

Klippel-Trenaunay-Weber Syndrome: Klippel-Trenaunay-Weber Syndrome is a rare vascular congenital condition due to improper formation of blood and/or lymphatic vessels. It has three features: Port Wine Stain (nevus flammeus or capillary hemangioma), venous or/and lymphatic malformations, and enlargement (soft-tissue hypertrophy) of the affected extremity. ...Read more

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What is Klippel-Trenaunay-Weber syndrome?

What is Klippel-Trenaunay-Weber syndrome?

KTW syndrome: KTW is a rare defect involving capillary abnormalities, enlargement of one leg, an atypical varicosity on the lateral side and arteriovenous malformation. ...Read more

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Could you explain what is klippel trenaunay weber syndrome?

Could you explain what is klippel trenaunay weber syndrome?

Blood vessel malform: Rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus (port-wine stain), venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. Often called angio-osteohypertrophy or hemangiectatic hypertrophy and is found as a congenital defect at time of birth in many cases. ...Read more

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What is klippel-feil syndrome?

What is klippel-feil syndrome?

Rare disease: Klippel-Feil syndrome is characterized by the congenital fusion of several of the cervical vertebrae. It is a congenital defect in formation of the cervical vertebral segments. People with it have a short neck, low hairline and limited movement of the spine. Surgery may be necessary for spinal stenosis or severe scoliolsus. It is not inherited. ...Read more

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Goldenhar syndrome treatment?

Goldenhar syndrome treatment?

Birth defect: Congenital birth defect that affects the development of the ear, nose, mandible, and palate. ...Read more

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What is smith lemli opitz syndrome?

What is smith lemli opitz syndrome?

Inherited Condition: 1 / 20, 000- 60, 000 newborns are born w/ this condition which can cause malformations of heart, lungs, kidneys, gut & genitalia. Affected babies often have small head size, fused second & third toes &sometimes extra fingers and toes. There can be learning and behavior problems from mild to approaching autism in severity. Infants may grow more slowly, have weaker muscle tone, & have feeding issues. ...Read more

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Is goldenhar syndrome heritable?

Is goldenhar syndrome heritable?

It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of same parents. ...Read more

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What is antiphospolipid syndrome (hughes syndrome)?

What is antiphospolipid syndrome (hughes syndrome)?

Antiphospholipids: An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus. ...Read more

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Is prader willi syndrome hereditary?

Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

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What causes von hippel lindau?

What causes von hippel lindau?

Genetic: Von hippel–lindau disease is a genetic condition caused by a mutation of the “von hippel-lindau tumor suppressor” gene on chromosome 3 .It is autosomal dominant. ...Read more

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What is bardet biedl syndrome?

What is bardet biedl syndrome?

Wow: I have to think back to medical school- best to review with a pediatrician- it is a syndrome that has many characteristic, which can have degrees of severity and may or may not exist among those affected- in other words, not all affected are necessarily alike-: it is genetic, obesity, mental deficiencies, blindness, problems with kidney function, problems with gonads, extra fingers, diabetes, wea. ...Read more

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Is sturge weber syndrome is progressive disease?

Is sturge weber syndrome is progressive disease?

Not progressive: But will always need follow up eye exams to monitor for possible glaucoma. ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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What are von hippel - lindau disease and lennox/gastaut syndrome.?

What are von hippel - lindau disease and lennox/gastaut syndrome.?

Syndromes: Von Hippel-Lindau syndrome is a genetic disorder that leads to the developement of many different types of tumors. Lennox Gastaut syndrome is a disorder in which the victim has many seizures. Both are severe, and a person with either one should have a doctor familiar with its treatment ...Read more

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What is neuromytonia (isaacs syndrome)?

What is neuromytonia (isaacs syndrome)?

Neuromyotonia (NMT): Neuromyotonia (nmt), also known as isaacs' syndrome, is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin. Patients with this disorder usually develop: cramps, muscle twitches, muscle stiffness and spasms. Muscle relaxation can difficult and hand getting stuck closed is one example. ...Read more

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What is Treacher Collins Syndrome?

What is Treacher Collins Syndrome?

TC Syndrome: TCS is a genetic craniofacial disorder. Complete description here: http://en.wikipedia.org/wiki/Treacher_Collins_syndrome See oral surgeon or craniofacial surgeon for surgical corrections procedures. Requires years of management by surgeon, speech therapist, pediatrician, orthodontist. ...Read more

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What is hemorrhagic telangiectasia also known as oslo weber rendu syndrome?

What is hemorrhagic telangiectasia also known as oslo weber rendu syndrome?

Same: Oslo rendu weber involves vascular malformations on mucosal surfaces and is a congenital genetic disease. These vascular abnormalities frequently bleed. ...Read more

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Hows patau syndrome inherited?

Hows patau syndrome inherited?

Not inherited: Patau syndrome, or trisomy 13, is not inherited, in that a baby does not "get it" from either parent. It is usually caused when the egg does not divide properly at the time of fertilization. This accident causes a baby to get an extra number 13 chromosome in every one of its cells. Trisomy 13 is rare, but a very serious condition. Most babies with it die before birth or shortly after birth. ...Read more