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Doctor insights on: Marshall Syndrome

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Who makes rett syndrome diagnosis?

Who makes rett syndrome diagnosis?

Pediatrician: A good experienced pediatrician can make the diagnosis, especially if they have other patients with rett's. ...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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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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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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What is mayer rokitansky kuster hauser syndrome?

What is mayer rokitansky kuster hauser syndrome?

GYN Condition mostly: Mayer-rokitansky-küster-hauser syndrome is a condition in which the vagina & uterus either never developed or they are underdeveloped. Females with this condition don’t menstruate but they do have functioning ovaries. There may be accompanying abnormalities of the kidneys, spinal vertebrae, heart or ears. ...Read more

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What is mayer rokitansky kuster hauser syndrome?

What is  mayer rokitansky kuster hauser syndrome?

Long name!!: Mayer-rokitansky-küster-hauser syndrome is a condition in which the vagina & uterus either never developed or they are underdeveloped. Females with this condition don’t menstruate but they do have functioning ovaries. There may be accompanying abnormalities of the kidneys, spinal vertebrae, heart or ears. ...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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Whats mayer rokitansky kuster hauser syndrome?

Whats mayer rokitansky kuster hauser syndrome?

Female reproduction: Mayer-rokitansky-küster-hauser syndrome is a condition in which the vagina & uterus either never developed or they are underdeveloped. Females with this condition don’t menstruate but they do have functioning ovaries. There may be accompanying abnormalities of the kidneys, spinal vertebrae, heart or ears. ...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 pallister killian syndrome curable?

Is pallister killian syndrome curable?

No: Pallister killien is a random defect of the 12th chromosome. It has muliple far reaching effects. It is evidenced by hypotonia, developmental delay, itellectual impairment, coarse features, sparse hair. It is not hereditary. Once a person has it one can only cope with the defect to try to ameliorate the symptoms, ie hearing defects with a hearing aid, etc. ...Read more

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Is munchausen syndrome curable?

Is munchausen syndrome curable?

Yes, with difficulty: Munchaussen's syndrome is difficult to treat because, in most cases, the individual really does not want to get treatment. Once he/she does want treatment it can be treated with depth insight-oriented psychotherapy. ...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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Who discovered patau syndrome?

Who discovered patau syndrome?

T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas bartholin in 1657. ...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 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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How is Stockholm syndrome diagnosed?

Stockholm: By initially noticing the victim being sympathetic toward his/her captors, AKA identification with the aggressor. ...Read more

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Shy drager syndrome treatments?

Shy drager syndrome treatments?

www.rightdiagnosis.: Antiparkinsonian medication l-dopa treatments for orthostatic hypotension: high-salt diet high-fluid diet medications to increase blood pressure salt-retaining steroids alpha-adrenergic medications non-steroidal anti-inflammatory drugs sympathomimetic amines sleeping with head raised feeding tube - if feeding or swallowing difficulties require. Breathing tube - for breathing difficulty. ...Read more

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What is the treatment for mayer rokitansky kuster hauser syndrome?

What is the treatment for mayer rokitansky kuster hauser syndrome?

MRKHS: This is a female with 46xx chromosome pattern, leading to under-developed vagina/uterus. Also, may develop abnormalities of kidneys, bones, hearing, heart. ...Read more

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When was crouzonodermoskeletal syndrome discovered?

When was crouzonodermoskeletal syndrome discovered?

Crouzon syndrome : 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