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Doctor insights on: Hinman Syndrome

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Is miller syndrome the same as miller fisher syndrome ?

Is miller syndrome the same as miller fisher syndrome ?

No: Miller Syndrome is a rare condition affecting the face and arms- here is a link with more information http://ghr.nlm.nih.gov/condition/miller-syndrome Miller-Fisher syndrome is causes poor muscle coordination and paralysis of the eye muscles - here is a link for MFS http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm ...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 '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 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 treacher collins syndrome a mitochondrial disorder?

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 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 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 munchausen syndrome herreitery?

Possibly: There may be some hereditary predisposition. Munchausen syndrome was reported in two brothers, two twins and couple families. ...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 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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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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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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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 charles bonnet syndrome?

What is charles bonnet syndrome?

Hallucinations: Charles bonnet syndrome is the occurence of visual hallucinations in blind people, especially those with retinal disease. Patients who experience these should be reassured that they are not psychiatric in nature. ...Read more

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What makes compartment syndrome unique?

What makes compartment syndrome unique?

Pain: It is a very severe and serious condition that can result in nerve and muscle damage if not treated. It is the degree of pain that is unique. ...Read more

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Whats compartment syndrome?

CS: It is a very severe and serious condition that can result in nerve and muscle damage if not treated. It results from pressure on those tissues, often from fracture, crush injury or lack of blood flow to the tissue. ...Read more

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Is XXY klinefelter's syndrome related at all to marfan's syndrome?

Is XXY klinefelter's syndrome related at all to marfan's syndrome?

No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...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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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