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Doctor insights on: Neurocutaneous Syndrome

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Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

Dr. Eric Weisman
5 doctors shared insights

Neurocutaneous Syndromes (Definition)

Neurocutaneous syndromes are disorders that lead to growth of tumors in various parts of the body. They're caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body. Examples: neurofibromatosis, types 1 and 2 (nf1 and nf2) sturge-weber syndrome tuberous sclerosis (ts) ataxia-telangiectasia ...Read more


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What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more

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Is cubital tunnel syndrome rare?

Is cubital tunnel syndrome rare?

No: it is not rare but less prevalent than carpal tunnel syndrome for every 20 carpal tunnels i do one cubital tunnel release ...Read more

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What's guillian barre syndrome (gbs) syndrome?

What's guillian barre syndrome (gbs) syndrome?

Auto-immune reaction: A triggered auto-immune reaction usually against the myelin of peripheral nerves. In a subset of individuals, the response is also directed at the nerve cells. This causes slowing of nerve conduction and motor weakness classically in an ascending pattern from the legs proximally. The attack may be so dramatic as to cause breathing difficulty requiring a respirator. Treatment options exist. ...Read more

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Is paraneoplastic syndrome genetic?

Is paraneoplastic syndrome genetic?

No: There is no genetic relationship to the development of a paraneoplastic syndrome. ...Read more

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Spasticity common with tarsal tunnel syndrome???

Spasticity common with tarsal tunnel syndrome???

To some extent: Compression of the structures in the tarsal tunnel can cause muscular spasm of the medial aspect of the foot. On the other hand, if it is particularly severe, there may be something else going on. ...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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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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Describe tarsal tunnel syndrome?

Describe tarsal tunnel syndrome?

Pain, burning: Tarsal tunnel syndrome is an injury or compression of the posterior tibial nerve. This runs behind the inside ankle bone into the foot at the level of the heel bone. Most symptoms will be pain and burning from the level of the ankle to the bottom of the foot depending on which nerve branches are involved. ...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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Guillain barre syndrome connected to eczema?

Guillain barre syndrome connected to eczema?

No connection: There is no relationship between guillain barre syncroe and eczea. ...Read more

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What is gillian barre syndrome?

What is gillian barre syndrome?

Autoimmune: An autoimmune disease that attacks the myelin sheaths on your peripheral nerves. Usually starts in feet an ascends. Sometimes starts in the eyes. ...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 angelman syndrome?

What causes angelman syndrome?

Because..: Most likely due to physical features and some developmental issues.These kids often have some delays.It is a genetic condition due to a defect in the child's chromosomes. ...Read more

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What causes guillain-barre syndrome (gbs)?

What causes guillain-barre syndrome (gbs)?

No one knows: Gbs occurs when the bodies immune system attacks the lining or myelin of the nerve cells in the peripheral nervous system. Although it can be associated with things like following surgery or after certain infections, for example it has been seen following campylobacter infection which causes diarrhea, the true cause is unknown. ...Read more

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What causes tourette syndrome?

What causes tourette syndrome?

Gene mapping in : families with multi-generational GTS shows many mutant genes, alone or in combination, cause GTS. The complex patterns of inheritance & associated neuropsychiatric & neurodevelopmental disorders are on omim.org/entry/137580?search=tourette%20gene&highlight=tourette%20gene.Until whole genome testing is affordable,a Chromosomal Microarray is the blood test most likely to detect GTS mutations. ...Read more

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Does paraneoplastic neurological syndrome cause tachycardia?

Does paraneoplastic neurological syndrome cause tachycardia?

Well it can. : paraneoplastic syndromes of the nervous system usually can have varying symptoms of all kinds depending on the body part being injured. one of the things that can be injured is known as Dysautonomia. This means injury to the body functions that are involuntary that includes heart rate. ...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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Is patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read more

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