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Doctor insights on: Khan Syndrome

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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 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?

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 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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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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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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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 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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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 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 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 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 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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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 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