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Doctor insights on: Aarskog Syndrome

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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 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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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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Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Who discovered crouzonodermoskeletal syndrome (crouzon syndrome)? What is it?

Crouzonodermoskeleta: Crouzonodermoskeletal syndrome involves premature joining skull bones & acanthosis nigricans. Louis edouard octave crouzon (1874–1938) published “une nouvelle famille atteinte de dysostose cranio-faciale héréditaire” in archives de médecine DES enfants, paris, in 1915. So I am guessing that he discovered crouzon syndrome prior to that publication. ...Read more

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Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Cowden Syndrome: http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/8 Those are fairly rare disease Perhaps the above links could assist you. Seems like University of Iowa does have expertise. ...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 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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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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Describe lucey-driscoll syndrome please.?

Describe lucey-driscoll syndrome please.?

Newborn jaundice: Lucey-driscoll syndrome is a from of temporary newborn jaundice that runs in families. It's a recessive condition: if both parents are carriers it happens in about 1/4 of their kids on average. The baby's body can't properly breakdown bilirubin, so bilirubin levels can get quite high, causing severe jaundice. It's important to treat the jaundice in lucey-driscoll syndrome. ...Read more

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What is WAGR syndrome?

What is WAGR syndrome?

Http://en.wikipedia.org/wiki/WAGR_syndrome: WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour (a tumour of the kidneys), Aniridia (absence of the coloured part of the eye, the iris), Genitourinary anomalies, and Retardation.[1] The G is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies are tumours of the gonads (testes or ovaries).[2] per wikipedia ...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 is elhers dansol syndrome?

What is elhers dansol syndrome?

Ehlers Danlos: The ehlers danlos syndrome is a genetic variation in the structure of connective tissue (of the collagen molecule), which causes hyperflexibility of joints, loose/stretchy skin, and internal problems that can be quite serious. It has multiple forms, some having more common serious internal problems, such as tendency to rupture the aorta. ...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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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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Help docs, is goldenhar syndrome alike to down syndrome?

Help docs, is goldenhar syndrome alike to down syndrome?

No: Down's Syndrome is caused by a translocation of the 21st chromosome. The cause of Goldenhar syndrome is not exactly clear. Totally unrelated syndromes. ...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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What's the Kundalini syndrome?

What's the Kundalini syndrome?

Kundalini: The kundalini syndrome has been reported in people with near-death experiences or with some types of yoga & meditation. The main sx is a feeling of energy or heat at the spine. It can also include severe headaches, sense of energy or heat in the hands, ecstasy, body tremor or vibration, sense of heat or cold moving through the body, sensing inner lights as well as other tactile experiences. ...Read more

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Can sjogen's syndrome be cured?

Can sjogen's syndrome be cured?

See below: There is no true cure for autoimmune diseases such as sjogren's---our goal is to put them into remission with medications so that you can feel better. ...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 XYY syndrome or disease?

What is XYY syndrome or disease?

Extra Y chromosome: About one man in 1000 has an extra Y chromosome and it's likely to be discovered only if there's some investigation because of some problem such as autism. This has given rise to the myth that autism, criminal behavior and so forth are more common in such men. They average taller and tend to get worse acne. The "criminal" claims haven't held up to real science. ...Read more

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How serious is Alstrom syndrome?

How serious is Alstrom syndrome?

Depends on Severity: In some cases there can be serious issues with liver, kidneys, bladder, & /or lungs. ...Read more

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What is dual retraction syndrome?

What is dual retraction syndrome?

Typo?: There is no such thing. Do you mean Duane's Retraction syndrome? If so, here you go: https://en.wikipedia.org/wiki/Duane_syndrome It's a rare congenital cause of strabismus (unable to move eye normally). If that is not what you meant, please ask your question again and clarify. ...Read more

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What is deletion syndrome 22q.11?

Highly variable: This is fairly common and quite variable clinically depending on the extent of the deletion. DiGeorge and velocardialfacial syndrome patients may have deletions here. There's a good review at http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome ...Read more

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What is stephen johnsons syndrome?

What is stephen johnsons syndrome?

SJS: A very serious skin reaction with very high morbidity and poor prognosis. Drugs are the most common cause, but viral infections (including hiv) have also been implicated. If there is even the slightest concern for sjs, you need to seek immediate dermatologic evaluation as this is a medical emergency. This is in the same family as erythema multiforme and toxic epidermal necrolysis. ...Read more

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How is Alstrom syndrome diagnosed?

How is Alstrom syndrome diagnosed?

Alstrom syndrome: Usually diagnosed clinically due to sparsity of labs that offer genetic testing for the condition. ...Read more

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Will I die from sjögren’s syndrome?

Will I die from sjögren’s syndrome?

No: Sjogren's does give you a somewhat increased risk of malignant lymphoma, and it may run with a disease like lupus or scleroderma which you'd know by now whether or not you have. By itself, sjogren's is a nuisance disease. The most dangerous feature is that maybe 1% of patients get a vasculitis that can cause brain dysfunction that mimics multiple sclerosis. Be alert as it's manageable. ...Read more

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What is turners syndrome prognosis?

What is turners syndrome prognosis?

Turner's Syndrome: The prognosis for turner's syndrome diagnosed at birth is usually good. They will be short. They have streaked gonads. They can have a webbed neck. There can be lymphedema. There can be associated perceptual problems. They are not necessarily mentally retarded. There can be coarctation of the aorta. ...Read more

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Is Tzeitse syndrome always painful?

Is Tzeitse syndrome always painful?

Likely: I am sorry you are experiencing Tietze's syndrome (aka Costochondritis with swelling). But sadly Tietze's syndrome is usually painful, and the only treatment is symptom control. I would advise you visit an Urgent Care clinic/ER when experiencing these episodes and tell the doc you have a history of Tietze's syndrome so that they can tell the difference from a Heart Attack and your condition. ...Read more

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What is the cause of edward's syndrome?

What is the cause of edward's syndrome?

Defective transfer: When eggs/sperm form they go through a process where the pairs of chromosomes split.Each resulting egg or sperm should only have one of the pair. When /if an egg or sperm fails to drop one or part of the chromosome 18, it will have excessive material once conception occurs.That extra material interferes with normal development. ...Read more

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Is there a syndrome that reverses aging?

Is there a syndrome that reverses aging?

Not aware.: Dorian gray syndrome: exists only in literature. All of the contrary, on progeria pts are children that accelerate the rate of aging and look and have the diseases of old people and die very young from diseases of the elderly. ...Read more

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What exactly is acute katayama syndrome?

What exactly is acute katayama syndrome?

Parasitic infection: A tropical disease, due to Schistosomiasia, a parasitic disease. See this discussion: https://patient.info/doctor/schistosomiasis-pro ...Read more

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What's the incidence of edward syndrome?

What's the incidence of edward syndrome?

One in 6,000: Edwards syndrome occurs in around one in 6, 000 live births and around 80 percent of those affected are female. The majority of fetuses with the syndrome die before birth. The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders. ...Read more

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Please tell me what hurlers syndrome is?

Please tell me what hurlers syndrome is?

Genetic disordet: Hurler syndrome is a rare, inherited disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides). There is deficiency of a lysosomal enzyme which leads to build up long chain polysaccharides build up and damage organs. Symptoms begin early and are progressive. Enzyme replacement may help mitigate symptom ...Read more

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What exactly is xyy syndrome or disease?

Usually non-problem: This is a man with an extra y chromosome. These men tend to be tall and to have more troubles with acne than others. A junk-science paper and a false claim by murderer richard speck popularized the myth that these men tend to criminality. If there are no health problems, xyy almost never gets discovered except by prenatal screening; in the latter case it usually causes no troubles. ...Read more