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Doctor insights on: Arnold Syndrome

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What is arnold chiari syndrome?

What is arnold chiari syndrome?

Malformation: Chiari described different defects of the cerebellum. Arnold added details of a very specific malformation (chiari type 2). Low lying tonsils with elongation of medulla, kinking of fourth ventricle with obstruction, and associated fusing of thalamus, hydrocephalus, peaking of quadrigeminal plate, etc. Associated with spinal bifida. Sorry you asked? ...Read more

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Please explain arnold chiari syndrome.?

Please explain arnold chiari syndrome.?

Now called Chiari ll: A retrospective look has taken arnold's name away. There are two main types of chiari malformations that are not really related to each other. Chiari 1 affects adults and is the result of a small brain compartment that forces the cerebellar tonsils through the foramen magnum. Chiari 11 affects children from birth and is associated with a myelomeningocele at birth. The brainstem itself is altered. ...Read more

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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

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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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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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What's turner syndrome?

What's turner syndrome?

45 X/0 Pattern: At conception, one half of a set of 46 (23pairs) chromosomes (cms) is brought from egg & sperm.If the combination is missing one x of the sex cms, a female is born with 45 instead of 46 cms, to reflect the loss.The lost cms can effect every cell in the body, resulting in a variety of heart, kidney, brain or other problems. It also may cause no specific problem & not be noticed until lat childhood. ...Read more

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What causes arnold chiari malformation?

What causes arnold chiari malformation?

No one knows: Chiari described malformations of the cerebellum. Arnold added the defects in the brain associated with spina bifida. This became known as chiari type 2 or arnold chiari. There is kinking of the medulla and fourth ventricle, obstruction of the outlet of the fourth ventricle, peaking of brainstem, fusion of thalamus, as well as hydrocephalus and incomplete closure of spinal cord. ...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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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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What's evans syndrome?

What's evans syndrome?

Anemia: Evans syndrome is a rare type of anemia in which the body makes antibodies that destroys white blood cells, red blood cells and platelets. ...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 'disembarkment syndrome' or 'mal de debarquement' syndrome/mdds)?

What is 'disembarkment syndrome' or 'mal de debarquement' syndrome/mdds)?

Disembarkment: Is a rare condition occurring after a motion event such as flying. Causes feelings of swaying or rocking, imbalance, fatigue & low concentration (brain fog), headaches, dizziness. Symptoms worsen by stress or lack of sleep or loud noises. Cause unknown. Some benefit from Benzodiazepines & Repetitive Transcranial Magnetic Stimulation. ...Read more

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What's patau syndrome?

What's patau syndrome?

Lethal Trisomy 13.: Patau syndrome refers to a perinatally lethal condition that results from an extra chromosome 13. It usually features holoprosencephaly microcephaly cyclopia proboscis midline facial clefting heart defects omphalocele poor growth clenched fists polyhydramnios kidney anomalies and single umbilical artery. Prompt pregnancy termination should be undertaken upon prenatal diagnosis if <24 weeks. ...Read more

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What's hughes syndrome?

What's hughes syndrome?

Autoimmune clotting: Try here: http://www.Hughes-syndrome.Org/symptoms.Htm.

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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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Is treacher collins syndrome a mitochondrial disorder?

No: Treacher collins syndrome is an autosomal dominant mutation of a gene that codes for a nucleolar phosphoprotein.Researchers cite chromasome 5 as the predominant location for this defect.About 60% of cases are thought to represent new mutations. ...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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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 is arnold chiari syndrome?

Malformation: Chiari described different defects of the cerebellum. Arnold added details of a very specific malformation (chiari type 2). Low lying tonsils with elongation of medulla, kinking of fourth ventricle with obstruction, and associated fusing of thalamus, hydrocephalus, peaking of quadrigeminal plate, etc. Associated with spinal bifida. Sorry you asked? ...Read more

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Please explain arnold chiari syndrome.?

Now called Chiari ll: A retrospective look has taken arnold's name away. There are two main types of chiari malformations that are not really related to each other. Chiari 1 affects adults and is the result of a small brain compartment that forces the cerebellar tonsils through the foramen magnum. Chiari 11 affects children from birth and is associated with a myelomeningocele at birth. The brainstem itself is altered. ...Read more

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Should i be concerned if my mum has arnold chiari syndrome i trying 2 find out what the average life expectancy is for people with this?

Should i be concerned if my mum has arnold chiari syndrome i trying 2 find out what the average life expectancy is for people with this?

Chiari: It needs to be monitored with scans especially if she has chairi symptoms. This could be congenital as well. As long as it stable, and she is asymptomatic, it does not cause any problems should consult neurosurgeon and neurology. ...Read more

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Could you explain what is arnold-chiari 1 syndrome?

Could you explain what is arnold-chiari 1 syndrome?

Congenital Crowding: Congenital malformation. Is generally asymptomatic during childhood, but often manifests with headaches and cerebellar symptoms. Herniation of cerebellar tonsils. ...Read more

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What's pisa syndrome?

Pisa syndrome: A persistent administration of antipsychotic can produce persistent dystonia , which is called pisa syndrome. ...Read more

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What is mrkh syndrome?

What is mrkh syndrome?

MRKH Syndrome: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome - the vagina & uterus are underdeveloped or absent. ...Read more

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What's downs syndrome?

What's downs syndrome?

Downs syndrome: Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so developmental problems range from moderate to serious. ...Read more

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What's ribtip syndrome?

What's ribtip syndrome?

Rib-tip Syndrome: Rib-tip syndrome is also called “costo-iliac impingement syndrome”. It occurs when the top of the hip bone touches or rubs on the lowest rib & leads to pain. ...Read more

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What is berhs syndrome?

What is berhs syndrome?

Genetic blindness: This is an autosomal recessive disease (i.e., the patient inherits one defective gene from each parent), with progressive loss of vision and sometimes other neurologic problems. Carriers (one copy of the gene) may have some visual problems. There is no specific treatment, and my hope is that if you or someone you know is affected, good supportive care will be available. ...Read more

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What is sharpe syndrome?

What is sharpe syndrome?

Sharpe Syndrome : Its another name for mixed connective tissue disease, an autoimmune disease with features of systemic lupus erythematosus, scleroderma, and polymyositis, sometime referred to as undifferentiated connective tissue disease. Individuals who have this condition are best served by a rheumatologist (an internist with subspecialty training in rheuamtology). ...Read more

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What is cowden syndrome?

What is cowden syndrome?

Tumor family: This is a fairly common trait passed parent-to-child, 50% chance, in which certain tumors are substantially more common and there may be curious bumps especially on the skin. It is not curable but if good surveillance for tumors is maintained, it's manageable. Several genetic loci are known especially pten, and genetic counseling is available. ...Read more

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What is reye's syndrome?

What is  reye's syndrome?

Deadly process: First noted in the 60'sand peaking in the 70's, this is a pattern of acute liver failure,coma and often death. It often struck kids recovering from flu or chickenpox. Its cause is unclear, but an association with intake of any salicylate product was recognized.After salicylates were stopped for kids under 16, the condition has all but disappeared. ...Read more

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What is Alstrom syndrome?

What is Alstrom syndrome?

Very rare genetic dz: This is a very, very rare genetic disorder, which can cause obesity, blindness, and hearing loss. See this article: https://en.wikipedia.org/wiki/Alstr%C3%B6m_syndrome ...Read more

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What is ashburg syndrome?

What is ashburg syndrome?

Asperger syndrome: I'm assuming is asperger syndrome. Is a mild form of autism. Consult with a pediatric psychologis & psychiatrist. ...Read more

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What is horner's syndrome?

What is horner's syndrome?

Read: Horner's syndrome is the combination of drooping of the eyelid (ptosis) and constriction of the pupil (miosis), sometimes accompanied by decreased sweating of the face on the same side; redness of the conjunctiva of the eye is often also present. It indicates a problem with the sympathetic nervous system. ...Read more

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What is hoigne's syndrome?

What is hoigne's syndrome?

Penicillin injection: Hoigne syndrome is due to an embolism caused by injection of procaine penicillin into muscle with subsequent neurologic problems. It is hypothesized that some of the drug may have entered the blood stream. ...Read more

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What is sjögren’s syndrome?

What is sjögren’s syndrome?

Dryness arthritis: Typically it is dryness of eyes, mouth, arthritis, swelling of salivary glands. ...Read more

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What is kallman's syndrome?

Genetic Condition: Kallmann's syndrome is a genetic condition characterized by the failure to commence or complete puberty. It causes hypogonadism (low level of circulating sex related hormones; testosterone in men and estrogen and Progesterone in women) and is accompanied by a total lack of the sense of smell (anosmia) or a heavily reduced sense of smell (hyposmia). The diagnosis is made by a full endocrine eval. ...Read more

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What is sundowner syndrome?

What is sundowner syndrome?

"sundowning": It is the tendency of elder and sometimes not so old patients to get a bit more disoriented and anxious in the evening. ...Read more

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What causes reye's syndrome?

What causes reye's syndrome?

Reye's syndrome: in children, which comes from giving aspirin to a child during a viral infection. Unfortunately, most over-the-counter (OTC) analgesic medications have not been specifically approved for children and frequently carry warnings against using these drugs in children under 16 years of age. ...Read more