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Doctor insights on: Liddle Syndrome

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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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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 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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Is frey's syndrome familial?

Is frey's syndrome familial?

No: Frey's syndrome is also called auriculotemporal nerve syndrome. This occurs after damage to this nerve in the face from trauma (birth trauma, gun shot, surgery, etc) and as the nerve "regrows" it goes to the surface rather than to the salivary gland. When a person eats something and salivates, the develop a red, non-itchy rash along the face where the nerve is. It's not familial. ...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'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's reye syndrome?

What's reye syndrome?

Acute liver failure: Recognized in the early 60's this pattern of acute liver failure/coma & death often struck kids recovering from the flu or chickenpox. After improving they went through a rapid decline in aleartness & were found to have liver failure.An association with Aspirin products led to almost total elimination it it's use in kids<16yo. It is now rarely if ever seen even at the largest children's hospitals. ...Read more

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Is nephrotic syndrome hereditary?

Is nephrotic syndrome hereditary?

See below: Some causes of nephrotic syndrome are due to herediary causes, eg one of the causes of fsgs also called focal and segmentalglomerulosclerosis. ...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 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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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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What's hughes syndrome?

What's hughes syndrome?

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

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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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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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Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...Read more

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Is munchausen syndrome hereditary?

nature and nurture: Like most mental health conditions, munchausen's is most likely a complex interplay between the genome and developmental/ socioemotional influences. ...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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Is turners syndrome a genetic disorder?

Yes: Most females are born with 2 x chromosomes. Ts is a disorder resulting from missing one x chromosome or some part of it in the cells of the body. It is a disorder exclusive to females. Those with ts are born with it. Manifestations vary depending on the genetics. Small stature is one feature most girls have in common with each other. ...Read more